Canonical Allele Identifier: CA505226717

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7591402C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526516C>T , CM000681.2:g.7526516C>T	GRCh38
NC_000019.9:g.7591402C>T , CM000681.1:g.7591402C>T	GRCh37
NC_000019.8:g.7497402C>T	NCBI36
NG_015806.1:g.8907C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264079.11:c.315C>T MANE Select	ENSP00000264079.5:p.Phe105=
ENST00000264079.10:c.315C>T	ENSP00000264079.5:p.Phe105=
ENST00000394321.9:n.395C>T
ENST00000596008.1:n.277C>T
ENST00000598406.1:n.136C>T
ENST00000601003.1:c.315C>T	ENSP00000469074.1:p.Phe105=
NM_020533.2:c.315C>T	NP_065394.1:p.Phe105=
NM_020533.3:c.315C>T MANE Select	NP_065394.1:p.Phe105=