ClinVar

NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)

Genes:

CACNA1C-AS1:CACNA1C antisense RNA 1 [Gene - HGNC]
CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.33

Genomic location:

• Chr12: 2679551 (on Assembly GRCh38)
• Chr12: 2788717 (on Assembly GRCh37)

Preferred name:

NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=)

HGVS:

• NC_000012.12:g.2679551G>A
• NG_008801.2:g.713766G>A
• NM_000719.7:c.5199G>AMANE SELECT
• NM_001129827.2:c.5343G>A
• NM_001129829.2:c.5322G>A
• NM_001129830.3:c.5199G>A
• NM_001129831.2:c.5283G>A
• NM_001129832.2:c.5259G>A
• NM_001129833.2:c.5256G>A
• NM_001129834.2:c.5256G>A
• NM_001129835.2:c.5256G>A
• NM_001129836.2:c.5250G>A
• NM_001129837.2:c.5223G>A
• NM_001129838.2:c.5223G>A
• NM_001129839.2:c.5217G>A
• NM_001129840.2:c.5199G>A
• NM_001129841.2:c.5199G>A
• NM_001129842.2:c.5199G>A
• NM_001129843.2:c.5199G>A
• NM_001129844.2:c.5190G>A
• NM_001129846.2:c.5166G>A
• NM_001167623.2:c.5199G>A
• NM_001167624.3:c.5199G>A
• NM_001167625.2:c.5166G>A
• NM_199460.4:c.5343G>A
• NP_000710.5:p.Ala1733=
• NP_001123299.1:p.Ala1781=
• NP_001123301.1:p.Ala1774=
• NP_001123302.2:p.Ala1733=
• NP_001123303.1:p.Ala1761=
• NP_001123304.1:p.Ala1753=
• NP_001123305.1:p.Ala1752=
• NP_001123306.1:p.Ala1752=
• NP_001123307.1:p.Ala1752=
• NP_001123308.1:p.Ala1750=
• NP_001123309.1:p.Ala1741=
• NP_001123310.1:p.Ala1741=
• NP_001123311.1:p.Ala1739=
• NP_001123312.1:p.Ala1733=
• NP_001123313.1:p.Ala1733=
• NP_001123314.1:p.Ala1733=
• NP_001123315.1:p.Ala1733=
• NP_001123316.1:p.Ala1730=
• NP_001123318.1:p.Ala1722=
• NP_001161095.1:p.Ala1733=
• NP_001161096.2:p.Ala1733=
• NP_001161097.1:p.Ala1722=
• NP_955630.3:p.Ala1781=
• LRG_334t1:c.5199G>A
• LRG_334:g.713766G>A
• NC_000012.11:g.2788717G>A
• NM_000719.6:c.5199G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs200638007

NCBI 1000 Genomes Browser:

rs200638007

Molecular consequence:

• NM_000719.7:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129827.2:c.5343G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129829.2:c.5322G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129830.3:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129831.2:c.5283G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129832.2:c.5259G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129833.2:c.5256G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129834.2:c.5256G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129835.2:c.5256G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129836.2:c.5250G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129837.2:c.5223G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129838.2:c.5223G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129839.2:c.5217G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129840.2:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129841.2:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129842.2:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129843.2:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129844.2:c.5190G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001129846.2:c.5166G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167623.2:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167624.3:c.5199G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001167625.2:c.5166G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_199460.4:c.5343G>A - synonymous variant - [Sequence Ontology: SO:0001819]