Canonical Allele Identifier: CA2320962554

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527874G= , CM000681.2:g.7527874G=	GRCh38
NC_000019.9:g.7592760G= , CM000681.1:g.7592760G=	GRCh37
NC_000019.8:g.7498760G=	NCBI36
NG_015806.1:g.10265G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.691G= MANE Select	ENSP00000264079.5:p.Val231=
ENST00000264079.10:c.691G=	ENSP00000264079.5:p.Val231=
ENST00000394321.9:n.1006G=
ENST00000601003.1:c.582G=	ENSP00000469074.1:p.Met194=
NM_020533.2:c.691G=	NP_065394.1:p.Val231=
NM_020533.3:c.691G= MANE Select	NP_065394.1:p.Val231=