Canonical Allele Identifier: CA279842

Gene: MPI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.74897711G>A , CM000677.2:g.74897711G>A	GRCh38
NC_000015.9:g.75190052G>A , CM000677.1:g.75190052G>A	GRCh37
NC_000015.8:g.72977105G>A	NCBI36
NG_008921.1:g.12643G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002435.3:c.1253G>A MANE Select	NP_002426.1:p.Arg418His
ENST00000352410.9:c.1253G>A MANE Select	ENSP00000318318.6:p.Arg418His
NM_001289155.1:c.*180G>A	NP_001276084.1:n.*180G>A
NM_001289155.2:c.*180G>A	NP_001276084.1:n.*180G>A
NM_001289156.1:c.1103G>A	NP_001276085.1:p.Arg368His
NM_001289156.2:c.1103G>A	NP_001276085.1:p.Arg368His
NM_001289157.1:c.1070G>A	NP_001276086.1:p.Arg357His
NM_001289157.2:c.1070G>A	NP_001276086.1:p.Arg357His
NM_001330372.1:c.1193G>A	NP_001317301.1:p.Arg398His
NM_001330372.2:c.1193G>A	NP_001317301.1:p.Arg398His
NM_002435.2:c.1253G>A	NP_002426.1:p.Arg418His
ENST00000323744.10:c.1070G>A	ENSP00000318192.6:p.Arg357His
ENST00000352410.8:c.1253G>A	ENSP00000318318.6:p.Arg418His
ENST00000535694.5:c.1103G>A	ENSP00000440447.1:p.Arg368His
ENST00000563786.5:c.1193G>A	ENSP00000455241.1:p.Arg398His
ENST00000566377.5:c.*180G>A	ENSP00000455405.1:n.*180G>A
ENST00000566556.1:n.2278G>A
ENST00000567177.1:c.822G>A	ENSP00000457013.1:n.822G>A
XM_011521592.1:c.1241G>A	XP_011519894.1:p.Arg414His
XM_011521593.1:c.1193G>A	XP_011519895.1:p.Arg398His
XM_017022208.1:c.*180G>A	XP_016877697.1:n.*180G>A
XM_017022209.2:c.*180G>A	XP_016877698.1:n.*180G>A