Canonical Allele Identifier: CA2813464282

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7527553dup , CM000681.2:g.7527553dup	GRCh38
NC_000019.9:g.7592439dup , CM000681.1:g.7592439dup	GRCh37
NC_000019.8:g.7498439dup	NCBI36
NG_015806.1:g.9944dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.605dup MANE Select	ENSP00000264079.5:p.Pro203SerfsTer?
ENST00000264079.10:c.605dup	ENSP00000264079.5:p.Pro203SerfsTer?
ENST00000394321.9:n.685dup
ENST00000598406.1:n.426dup
ENST00000601003.1:c.572-311dup	ENSP00000469074.1:n.572-311dup
NM_020533.2:c.605dup	NP_065394.1:p.Pro203SerfsTer?
NM_020533.3:c.605dup MANE Select	NP_065394.1:p.Pro203SerfsTer?