Canonical Allele Identifier: CA2320965546

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7533781C= , CM000681.2:g.7533781C=	GRCh38
NC_000019.9:g.7598667C= , CM000681.1:g.7598667C=	GRCh37
NC_000019.8:g.7504667C=	NCBI36
NG_013374.1:g.4630C=
NG_015806.1:g.16172C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1729C= MANE Select	ENSP00000264079.5:p.Leu577=
ENST00000264079.10:c.1729C=	ENSP00000264079.5:p.Leu577=
ENST00000394321.9:n.2044C=
ENST00000599334.1:c.457C=
ENST00000601870.1:c.82C=
ENST00000602227.1:n.283C=
NM_020533.2:c.1729C=	NP_065394.1:p.Leu577=
NM_020533.3:c.1729C= MANE Select	NP_065394.1:p.Leu577=