Canonical Allele Identifier: CA2587950499

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7533997-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7534001dup , CM000681.2:g.7534001dup	GRCh38
NC_000019.9:g.7598887dup , CM000681.1:g.7598887dup	GRCh37
NC_000019.8:g.7504887dup	NCBI36
NG_013374.1:g.4850dup
NG_015806.1:g.16392dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.*206dup MANE Select	ENSP00000264079.5:n.*206dup
ENST00000264079.10:c.*206dup	ENSP00000264079.5:n.*206dup
ENST00000601870.1:c.169+133dup
NM_020533.2:c.*206dup	NP_065394.1:n.*206dup
NM_020533.3:c.*206dup MANE Select	NP_065394.1:n.*206dup