Canonical Allele Identifier: CA505233327

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7598429A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533543A>C , CM000681.2:g.7533543A>C	GRCh38
NC_000019.9:g.7598429A>C , CM000681.1:g.7598429A>C	GRCh37
NC_000019.8:g.7504429A>C	NCBI36
NG_013374.1:g.4392A>C
NG_015806.1:g.15934A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1596A>C MANE Select	ENSP00000264079.5:p.Ala532=
ENST00000264079.10:c.1596A>C	ENSP00000264079.5:p.Ala532=
ENST00000394321.9:n.1911A>C
ENST00000599334.1:c.324A>C
ENST00000602227.1:n.150A>C
NM_020533.2:c.1596A>C	NP_065394.1:p.Ala532=
NM_020533.3:c.1596A>C MANE Select	NP_065394.1:p.Ala532=