Canonical Allele Identifier: CA2813464266

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527270dup , CM000681.2:g.7527270dup	GRCh38
NC_000019.9:g.7592156dup , CM000681.1:g.7592156dup	GRCh37
NC_000019.8:g.7498156dup	NCBI36
NG_015806.1:g.9661dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.572-250dup MANE Select	ENSP00000264079.5:n.572-250dup
ENST00000264079.10:c.572-250dup	ENSP00000264079.5:n.572-250dup
ENST00000394321.9:n.652-250dup
ENST00000598406.1:n.393-250dup
ENST00000601003.1:c.571+344dup	ENSP00000469074.1:n.571+344dup
NM_020533.2:c.572-250dup	NP_065394.1:n.572-250dup
NM_020533.3:c.572-250dup MANE Select	NP_065394.1:n.572-250dup