Canonical Allele Identifier: CA2576596957

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527459T>C , CM000681.2:g.7527459T>C	GRCh38
NC_000019.9:g.7592345T>C , CM000681.1:g.7592345T>C	GRCh37
NC_000019.8:g.7498345T>C	NCBI36
NG_015806.1:g.9850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-61T>C MANE Select	ENSP00000264079.5:n.572-61T>C
ENST00000264079.10:c.572-61T>C	ENSP00000264079.5:n.572-61T>C
ENST00000394321.9:n.652-61T>C
ENST00000598406.1:n.393-61T>C
ENST00000601003.1:c.572-405T>C	ENSP00000469074.1:n.572-405T>C
NM_020533.2:c.572-61T>C	NP_065394.1:n.572-61T>C
NM_020533.3:c.572-61T>C MANE Select	NP_065394.1:n.572-61T>C