Canonical Allele Identifier: CA2320961006

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7524730T= , CM000681.2:g.7524730T=	GRCh38
NC_000019.9:g.7589616T= , CM000681.1:g.7589616T=	GRCh37
NC_000019.8:g.7495616T=	NCBI36
NG_015806.1:g.7121T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.32-231T= MANE Select	ENSP00000264079.5:n.32-231T=
ENST00000264079.10:c.32-231T=	ENSP00000264079.5:n.32-231T=
ENST00000394321.9:n.112-231T=
ENST00000596390.1:n.148-231T=
ENST00000601003.1:c.32-231T=	ENSP00000469074.1:n.32-231T=
NM_020533.2:c.32-231T=	NP_065394.1:n.32-231T=
XR_936293.1:n.225A=
XR_936294.1:n.225A=
XR_936295.1:n.154+71A=
XR_936293.2:n.251A=
XR_936294.2:n.251A=
NM_020533.3:c.32-231T= MANE Select	NP_065394.1:n.32-231T=