Canonical Allele Identifier: CA9138601
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195500
ClinVar RCV Id: RCV002628718 RCV002647695
dbSNP Id: rs372794201
ExAC: 19:7589892 C / T
gnomAD v2: 19-7589892-C-T
gnomAD v3: 19-7525006-C-T
gnomAD v4: 19-7525006-C-T
COSMIC: COSM1003260
MyVariant Identifiers: chr19:g.7589892C>T (hg19) chr19:g.7525006C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7525006C>T , CM000681.2:g.7525006C>T GRCh38
NC_000019.9:g.7589892C>T , CM000681.1:g.7589892C>T GRCh37
NC_000019.8:g.7495892C>T NCBI36
NG_015806.1:g.7397C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.77C>T MANE Select ENSP00000264079.5:p.Ala26Val
ENST00000264079.10:c.77C>T ENSP00000264079.5:p.Ala26Val
ENST00000394321.9:n.157C>T
ENST00000596390.1:n.193C>T
ENST00000601003.1:c.77C>T ENSP00000469074.1:p.Ala26Val
NM_020533.2:c.77C>T NP_065394.1:p.Ala26Val
NM_020533.3:c.77C>T MANE Select NP_065394.1:p.Ala26Val
Search 100 bp 5'
Search 100 bp 3'