Canonical Allele Identifier: CA9138601

Gene: MCOLN1

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)

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