Canonical Allele Identifier: CA403091984

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598652T>A (hg19) ; chr19:g.7533766T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533766T>A , CM000681.2:g.7533766T>A	GRCh38
NC_000019.9:g.7598652T>A , CM000681.1:g.7598652T>A	GRCh37
NC_000019.8:g.7504652T>A	NCBI36
NG_013374.1:g.4615T>A
NG_015806.1:g.16157T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1714T>A MANE Select	ENSP00000264079.5:p.Ser572Thr
ENST00000264079.10:c.1714T>A	ENSP00000264079.5:p.Ser572Thr
ENST00000394321.9:n.2029T>A
ENST00000599334.1:c.442T>A
ENST00000601870.1:c.67T>A
ENST00000602227.1:n.268T>A
NM_020533.2:c.1714T>A	NP_065394.1:p.Ser572Thr
NM_020533.3:c.1714T>A MANE Select	NP_065394.1:p.Ser572Thr