Canonical Allele Identifier: CA505230149

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7591766G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526880G>T , CM000681.2:g.7526880G>T	GRCh38
NC_000019.9:g.7591766G>T , CM000681.1:g.7591766G>T	GRCh37
NC_000019.8:g.7497766G>T	NCBI36
NG_015806.1:g.9271G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.525G>T MANE Select	ENSP00000264079.5:p.Val175=
ENST00000264079.10:c.525G>T	ENSP00000264079.5:p.Val175=
ENST00000394321.9:n.605G>T
ENST00000596008.1:n.487G>T
ENST00000598406.1:n.346G>T
ENST00000601003.1:c.525G>T	ENSP00000469074.1:p.Val175=
NM_020533.2:c.525G>T	NP_065394.1:p.Val175=
NM_020533.3:c.525G>T MANE Select	NP_065394.1:p.Val175=