Canonical Allele Identifier: CA403086848

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7594041G>A (hg19) ; chr19:g.7529155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529155G>A , CM000681.2:g.7529155G>A	GRCh38
NC_000019.9:g.7594041G>A , CM000681.1:g.7594041G>A	GRCh37
NC_000019.8:g.7500041G>A	NCBI36
NG_013374.1:g.4G>A
NG_015806.1:g.11546G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1189G>A MANE Select	ENSP00000264079.5:p.Val397Met
ENST00000264079.10:c.1189G>A	ENSP00000264079.5:p.Val397Met
ENST00000394321.9:n.1504G>A
ENST00000594692.1:n.185G>A
ENST00000595860.5:n.372G>A
ENST00000599334.1:c.66G>A
NM_020533.2:c.1189G>A	NP_065394.1:p.Val397Met
NM_020533.3:c.1189G>A MANE Select	NP_065394.1:p.Val397Met