Canonical Allele Identifier: CA2499225624

Gene: MCOLN1

Linked Data

• ClinVar Variation Id: 1172994
• ClinVar RCV Id: RCV001527277
• dbSNP Id: rs1374334837

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526667T>C , CM000681.2:g.7526667T>C	GRCh38
NC_000019.9:g.7591553T>C , CM000681.1:g.7591553T>C	GRCh37
NC_000019.8:g.7497553T>C	NCBI36
NG_015806.1:g.9058T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+61T>C MANE Select	ENSP00000264079.5:n.405+61T>C
ENST00000264079.10:c.405+61T>C	ENSP00000264079.5:n.405+61T>C
ENST00000394321.9:n.485+61T>C
ENST00000596008.1:n.367+61T>C
ENST00000598406.1:n.226+61T>C
ENST00000601003.1:c.405+61T>C	ENSP00000469074.1:n.405+61T>C
NM_020533.2:c.405+61T>C	NP_065394.1:n.405+61T>C
NM_020533.3:c.405+61T>C MANE Select	NP_065394.1:n.405+61T>C