Canonical Allele Identifier: CA2587947868

Gene: MCOLN1

Linked Data

• dbSNP Id: rs774539152
• gnomAD v4: 19-7526637-A-AGGCAGGTGCAGGTGGGCG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7526649_7526666dup , CM000681.2:g.7526649_7526666dup	GRCh38
NC_000019.9:g.7591535_7591552dup , CM000681.1:g.7591535_7591552dup	GRCh37
NC_000019.8:g.7497535_7497552dup	NCBI36
NG_015806.1:g.9040_9057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.405+43_405+60dup MANE Select	ENSP00000264079.5:n.405+43_405+60dup
ENST00000264079.10:c.405+43_405+60dup	ENSP00000264079.5:n.405+43_405+60dup
ENST00000394321.9:n.485+43_485+60dup
ENST00000596008.1:n.367+43_367+60dup
ENST00000598406.1:n.226+43_226+60dup
ENST00000601003.1:c.405+43_405+60dup	ENSP00000469074.1:n.405+43_405+60dup
NM_020533.2:c.405+43_405+60dup	NP_065394.1:n.405+43_405+60dup
NM_020533.3:c.405+43_405+60dup MANE Select	NP_065394.1:n.405+43_405+60dup