Canonical Allele Identifier: CA2320963644

Gene: MCOLN1

Linked Data

• dbSNP Id: rs2022632489

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7530047_7530048insA , CM000681.2:g.7530047_7530048insA	GRCh38
NC_000019.9:g.7594933_7594934insA , CM000681.1:g.7594933_7594934insA	GRCh37
NC_000019.8:g.7500933_7500934insA	NCBI36
NG_013374.1:g.896_897insA
NG_015806.1:g.12438_12439insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1360-239_1360-238insA MANE Select	ENSP00000264079.5:n.1360-239_1360-238insA
ENST00000264079.10:c.1360-239_1360-238insA	ENSP00000264079.5:n.1360-239_1360-238insA
ENST00000394321.9:n.1675-239_1675-238insA
ENST00000594692.1:n.356-239_356-238insA
ENST00000595860.5:n.543-239_543-238insA
ENST00000599334.1:c.236+335_236+336insA
NM_020533.2:c.1360-239_1360-238insA	NP_065394.1:n.1360-239_1360-238insA
NM_020533.3:c.1360-239_1360-238insA MANE Select	NP_065394.1:n.1360-239_1360-238insA