Canonical Allele Identifier: CA993153526

Gene: MCOLN1

Linked Data

• dbSNP Id: rs1038561826
• gnomAD v3: 19-7526683-T-TGGTGGGCGGGCAGGTGCA
• gnomAD v4: 19-7526683-T-TGGTGGGCGGGCAGGTGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526690_7526707dup , CM000681.2:g.7526690_7526707dup	GRCh38
NC_000019.9:g.7591576_7591593dup , CM000681.1:g.7591576_7591593dup	GRCh37
NC_000019.8:g.7497576_7497593dup	NCBI36
NG_015806.1:g.9081_9098dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.406-71_406-54dup MANE Select	ENSP00000264079.5:n.406-71_406-54dup
ENST00000264079.10:c.406-71_406-54dup	ENSP00000264079.5:n.406-71_406-54dup
ENST00000394321.9:n.486-71_486-54dup
ENST00000596008.1:n.368-71_368-54dup
ENST00000598406.1:n.227-71_227-54dup
ENST00000601003.1:c.406-71_406-54dup	ENSP00000469074.1:n.406-71_406-54dup
NM_020533.2:c.406-71_406-54dup	NP_065394.1:n.406-71_406-54dup
NM_020533.3:c.406-71_406-54dup MANE Select	NP_065394.1:n.406-71_406-54dup