Canonical Allele Identifier: CA505229639

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1247774384
• MyVariant Identifiers: chr19:g.7591650C>T (hg19) ; chr19:g.7526764C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526764C>T , CM000681.2:g.7526764C>T	GRCh38
NC_000019.9:g.7591650C>T , CM000681.1:g.7591650C>T	GRCh37
NC_000019.8:g.7497650C>T	NCBI36
NG_015806.1:g.9155C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.409C>T MANE Select	ENSP00000264079.5:p.Leu137=
ENST00000264079.10:c.409C>T	ENSP00000264079.5:p.Leu137=
ENST00000394321.9:n.489C>T
ENST00000596008.1:n.371C>T
ENST00000598406.1:n.230C>T
ENST00000601003.1:c.409C>T	ENSP00000469074.1:p.Leu137=
NM_020533.2:c.409C>T	NP_065394.1:p.Leu137=
NM_020533.3:c.409C>T MANE Select	NP_065394.1:p.Leu137=