Canonical Allele Identifier: CA2587948014

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527099-A-ACCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527100_7527103dup , CM000681.2:g.7527100_7527103dup	GRCh38
NC_000019.9:g.7591986_7591989dup , CM000681.1:g.7591986_7591989dup	GRCh37
NC_000019.8:g.7497986_7497989dup	NCBI36
NG_015806.1:g.9491_9494dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+174_571+177dup MANE Select	ENSP00000264079.5:n.571+174_571+177dup
ENST00000264079.10:c.571+174_571+177dup	ENSP00000264079.5:n.571+174_571+177dup
ENST00000394321.9:n.651+174_651+177dup
ENST00000596008.1:n.707_710dup
ENST00000598406.1:n.392+174_392+177dup
ENST00000601003.1:c.571+174_571+177dup	ENSP00000469074.1:n.571+174_571+177dup
NM_020533.2:c.571+174_571+177dup	NP_065394.1:n.571+174_571+177dup
NM_020533.3:c.571+174_571+177dup MANE Select	NP_065394.1:n.571+174_571+177dup