Canonical Allele Identifier: CA505230723

Gene: MCOLN1

Linked Data

• MyVariant Identifiers: chr19:g.7592775C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527889C>A , CM000681.2:g.7527889C>A	GRCh38
NC_000019.9:g.7592775C>A , CM000681.1:g.7592775C>A	GRCh37
NC_000019.8:g.7498775C>A	NCBI36
NG_015806.1:g.10280C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.706C>A MANE Select	ENSP00000264079.5:p.Arg236=
ENST00000264079.10:c.706C>A	ENSP00000264079.5:p.Arg236=
ENST00000394321.9:n.1021C>A
ENST00000601003.1:c.597C>A	ENSP00000469074.1:p.Ser199=
NM_020533.2:c.706C>A	NP_065394.1:p.Arg236=
NM_020533.3:c.706C>A MANE Select	NP_065394.1:p.Arg236=