Canonical Allele Identifier: CA2320963510

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022629012

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529838C>T , CM000681.2:g.7529838C>T	GRCh38
NC_000019.9:g.7594724C>T , CM000681.1:g.7594724C>T	GRCh37
NC_000019.8:g.7500724C>T	NCBI36
NG_013374.1:g.687C>T
NG_015806.1:g.12229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1359+126C>T MANE Select	ENSP00000264079.5:n.1359+126C>T
ENST00000264079.10:c.1359+126C>T	ENSP00000264079.5:n.1359+126C>T
ENST00000394321.9:n.1674+126C>T
ENST00000594692.1:n.355+126C>T
ENST00000595860.5:n.542+126C>T
ENST00000599334.1:c.236+126C>T
NM_020533.2:c.1359+126C>T	NP_065394.1:n.1359+126C>T
NM_020533.3:c.1359+126C>T MANE Select	NP_065394.1:n.1359+126C>T