Canonical Allele Identifier: CA2320963412

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529606T= , CM000681.2:g.7529606T=	GRCh38
NC_000019.9:g.7594492T= , CM000681.1:g.7594492T=	GRCh37
NC_000019.8:g.7500492T=	NCBI36
NG_013374.1:g.455T=
NG_015806.1:g.11997T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1253T= MANE Select	ENSP00000264079.5:p.Leu418=
ENST00000264079.10:c.1253T=	ENSP00000264079.5:p.Leu418=
ENST00000394321.9:n.1568T=
ENST00000594692.1:n.249T=
ENST00000595860.5:n.436T=
ENST00000599334.1:c.130T=
NM_020533.2:c.1253T=	NP_065394.1:p.Leu418=
NM_020533.3:c.1253T= MANE Select	NP_065394.1:p.Leu418=