Canonical Allele Identifier: CA2838207683

Gene: MCOLN1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7528941dup , CM000681.2:g.7528941dup	GRCh38
NC_000019.9:g.7593827dup , CM000681.1:g.7593827dup	GRCh37
NC_000019.8:g.7499827dup	NCBI36
NG_015806.1:g.11332dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264079.11:c.1105dup MANE Select	ENSP00000264079.5:p.Thr369AsnfsTer?
ENST00000264079.10:c.1105dup	ENSP00000264079.5:p.Thr369AsnfsTer?
ENST00000394321.9:n.1420dup
ENST00000595860.5:n.288dup
NM_020533.2:c.1105dup	NP_065394.1:p.Thr369AsnfsTer?
NM_020533.3:c.1105dup MANE Select	NP_065394.1:p.Thr369AsnfsTer?