Canonical Allele Identifier: CA2587948484

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7527836-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527837dup , CM000681.2:g.7527837dup	GRCh38
NC_000019.9:g.7592723dup , CM000681.1:g.7592723dup	GRCh37
NC_000019.8:g.7498723dup	NCBI36
NG_015806.1:g.10228dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.681-27dup MANE Select	ENSP00000264079.5:n.681-27dup
ENST00000264079.10:c.681-27dup	ENSP00000264079.5:n.681-27dup
ENST00000394321.9:n.969dup
ENST00000601003.1:c.572-27dup	ENSP00000469074.1:n.572-27dup
NM_020533.2:c.681-27dup	NP_065394.1:n.681-27dup
NM_020533.3:c.681-27dup MANE Select	NP_065394.1:n.681-27dup