Canonical Allele Identifier: CA403082215

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592463C>T (hg19) ; chr19:g.7527577C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527577C>T , CM000681.2:g.7527577C>T	GRCh38
NC_000019.9:g.7592463C>T , CM000681.1:g.7592463C>T	GRCh37
NC_000019.8:g.7498463C>T	NCBI36
NG_015806.1:g.9968C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.629C>T MANE Select	ENSP00000264079.5:p.Thr210Ile
ENST00000264079.10:c.629C>T	ENSP00000264079.5:p.Thr210Ile
ENST00000394321.9:n.709C>T
ENST00000598406.1:n.450C>T
ENST00000601003.1:c.572-287C>T	ENSP00000469074.1:n.572-287C>T
NM_020533.2:c.629C>T	NP_065394.1:p.Thr210Ile
NM_020533.3:c.629C>T MANE Select	NP_065394.1:p.Thr210Ile