Canonical Allele Identifier: CA505232302

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7590052G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7525166G>A , CM000681.2:g.7525166G>A	GRCh38
NC_000019.9:g.7590052G>A , CM000681.1:g.7590052G>A	GRCh37
NC_000019.8:g.7496052G>A	NCBI36
NG_015806.1:g.7557G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.237G>A MANE Select	ENSP00000264079.5:p.Gln79=
ENST00000264079.10:c.237G>A	ENSP00000264079.5:p.Gln79=
ENST00000394321.9:n.317G>A
ENST00000596390.1:n.353G>A
ENST00000601003.1:c.237G>A	ENSP00000469074.1:p.Gln79=
NM_020533.2:c.237G>A	NP_065394.1:p.Gln79=
NM_020533.3:c.237G>A MANE Select	NP_065394.1:p.Gln79=