Canonical Allele Identifier: CA2838267344

Gene: MPPED1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.43442650G>A , CM000684.2:g.43442650G>A	GRCh38
NC_000022.10:g.43838569G>A , CM000684.1:g.43838569G>A	GRCh37
NC_000022.9:g.42168513G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443721.2:c.406+7435G>A MANE Select	ENSP00000400686.1:n.406+7435G>A
ENST00000417669.6:c.406+7435G>A	ENSP00000388137.1:n.406+7435G>A
ENST00000443721.1:c.406+7435G>A	ENSP00000400686.1:n.406+7435G>A
NM_001044370.1:c.406+7435G>A	NP_001037835.1:n.406+7435G>A
XM_011530367.1:c.406+7435G>A	XP_011528669.1:n.406+7435G>A
NM_001362786.1:c.406+7435G>A	NP_001349715.1:n.406+7435G>A
NM_001044370.2:c.406+7435G>A MANE Select	NP_001037835.1:n.406+7435G>A
NM_001362786.2:c.406+7435G>A	NP_001349715.1:n.406+7435G>A