Canonical Allele Identifier: CA2587947989

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527069-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527072dup , CM000681.2:g.7527072dup	GRCh38
NC_000019.9:g.7591958dup , CM000681.1:g.7591958dup	GRCh37
NC_000019.8:g.7497958dup	NCBI36
NG_015806.1:g.9463dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.571+146dup MANE Select	ENSP00000264079.5:n.571+146dup
ENST00000264079.10:c.571+146dup	ENSP00000264079.5:n.571+146dup
ENST00000394321.9:n.651+146dup
ENST00000596008.1:n.679dup
ENST00000598406.1:n.392+146dup
ENST00000601003.1:c.571+146dup	ENSP00000469074.1:n.571+146dup
NM_020533.2:c.571+146dup	NP_065394.1:n.571+146dup
NM_020533.3:c.571+146dup MANE Select	NP_065394.1:n.571+146dup