ClinVar

NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)

Gene:

CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 13298593 (on Assembly GRCh38)
• Chr19: 13409407 (on Assembly GRCh37)

Preferred name:

NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys)

HGVS:

• NC_000019.10:g.13298593C>T
• NG_011569.1:g.212868G>A
• NM_000068.4:c.3052G>A
• NM_001127221.2:c.3043G>A
• NM_001127222.1:c.3040G>A
• NM_001127222.2:c.3040G>AMANE SELECT
• NM_001174080.2:c.3043G>A
• NM_023035.3:c.3052G>A
• NP_000059.3:p.Glu1018Lys
• NP_001120693.1:p.Glu1015Lys
• NP_001120693.1:p.Glu1015Lys
• NP_001120694.1:p.Glu1014Lys
• NP_001167551.1:p.Glu1015Lys
• NP_075461.2:p.Glu1018Lys
• LRG_7t1:c.3043G>A
• LRG_7:g.212868G>A
• LRG_7p1:p.Glu1015Lys
• NC_000019.9:g.13409407C>T
• NM_000068.2:c.3043G>A
• NM_001127221.1:c.3043G>A
• NM_023035.2:c.3052G>A

This HGVS expression did not pass validation

Protein change:

E1014K

Links:

dbSNP: rs16024

NCBI 1000 Genomes Browser:

rs16024

Molecular consequence:

• NM_000068.4:c.3052G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127221.2:c.3043G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127222.2:c.3040G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001174080.2:c.3043G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_023035.3:c.3052G>A - missense variant - [Sequence Ontology: SO:0001583]