Canonical Allele Identifier: CA2587948877

Gene: MCOLN1

Linked Data

• gnomAD v4: 19-7529207-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7529211dup , CM000681.2:g.7529211dup	GRCh38
NC_000019.9:g.7594097dup , CM000681.1:g.7594097dup	GRCh37
NC_000019.8:g.7500097dup	NCBI36
NG_013374.1:g.60dup
NG_015806.1:g.11602dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1236+9dup MANE Select	ENSP00000264079.5:n.1236+9dup
ENST00000264079.10:c.1236+9dup	ENSP00000264079.5:n.1236+9dup
ENST00000394321.9:n.1551+9dup
ENST00000594692.1:n.232+9dup
ENST00000595860.5:n.419+9dup
ENST00000599334.1:c.113+9dup
NM_020533.2:c.1236+9dup	NP_065394.1:n.1236+9dup
NM_020533.3:c.1236+9dup MANE Select	NP_065394.1:n.1236+9dup