ClinVar

NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn)

Genes:

MYLK-AS1:MYLK antisense RNA 1 [Gene - HGNC]
MYLK:myosin light chain kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.1

Genomic location:

• Chr3: 123618727 (on Assembly GRCh38)
• Chr3: 123337574 (on Assembly GRCh37)

Preferred name:

NM_053025.4(MYLK):c.5412G>T (p.Lys1804Asn)

HGVS:

• NC_000003.12:g.123618727C>A
• NG_029111.1:g.270576G>T
• NM_001321309.2:c.4884G>T
• NM_053025.4:c.5412G>TMANE SELECT
• NM_053026.4:c.5205G>T
• NM_053027.4:c.5259G>T
• NM_053028.4:c.5052G>T
• NM_053031.4:c.129G>T
• NM_053032.4:c.132G>T
• NP_001308238.1:p.Lys1628Asn
• NP_444253.3:p.Lys1804Asn
• NP_444254.3:p.Lys1735Asn
• NP_444255.3:p.Lys1753Asn
• NP_444256.3:p.Lys1684Asn
• NP_444259.1:p.Lys43Asn
• NP_444260.1:p.Lys44Asn
• NC_000003.11:g.123337574C>A
• NM_053025.3:c.5412G>T

This HGVS expression did not pass validation

Protein change:

K1628N

Links:

dbSNP: rs139045748

NCBI 1000 Genomes Browser:

rs139045748

Molecular consequence:

• NM_001321309.2:c.4884G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_053025.4:c.5412G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_053026.4:c.5205G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_053027.4:c.5259G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_053028.4:c.5052G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_053031.4:c.129G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_053032.4:c.132G>T - missense variant - [Sequence Ontology: SO:0001583]