Canonical Allele Identifier: CA393175803
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896173A>T , CM000677.2:g.74896173A>T GRCh38
NC_000015.9:g.75188514A>T , CM000677.1:g.75188514A>T GRCh37
NC_000015.8:g.72975567A>T NCBI36
NG_008921.1:g.11105A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.692A>T MANE Select ENSP00000318318.6:p.Glu231Val
ENST00000323744.10:c.509A>T ENSP00000318192.6:p.Glu170Val
ENST00000352410.8:c.692A>T ENSP00000318318.6:p.Glu231Val
ENST00000535694.5:c.542A>T ENSP00000440447.1:p.Glu181Val
ENST00000561470.5:c.*588A>T ENSP00000454267.1:n.*588A>T
ENST00000562606.5:c.632A>T ENSP00000457020.1:p.Glu211Val
ENST00000562800.5:c.256-1366A>T ENSP00000457619.1:n.256-1366A>T
ENST00000563422.5:c.692A>T ENSP00000457885.1:p.Glu231Val
ENST00000563786.5:c.632A>T ENSP00000455241.1:p.Glu211Val
ENST00000564003.5:c.359A>T ENSP00000454312.1:p.Glu120Val
ENST00000566377.5:c.692A>T ENSP00000455405.1:p.Glu231Val
ENST00000566556.1:n.740A>T
ENST00000567177.1:c.470A>T ENSP00000457013.1:p.Glu157Val
ENST00000569931.5:c.632A>T ENSP00000455161.1:p.Glu211Val
NM_001289155.1:c.692A>T NP_001276084.1:p.Glu231Val
NM_001289156.1:c.542A>T NP_001276085.1:p.Glu181Val
NM_001289157.1:c.509A>T NP_001276086.1:p.Glu170Val
NM_002435.2:c.692A>T NP_002426.1:p.Glu231Val
XM_011521592.1:c.680A>T XP_011519894.1:p.Glu227Val
XM_011521593.1:c.632A>T XP_011519895.1:p.Glu211Val
NM_001330372.1:c.632A>T NP_001317301.1:p.Glu211Val
XM_017022208.1:c.632A>T XP_016877697.1:p.Glu211Val
XM_017022209.2:c.542A>T XP_016877698.1:p.Glu181Val
NM_002435.3:c.692A>T MANE Select NP_002426.1:p.Glu231Val
NM_001289155.2:c.692A>T NP_001276084.1:p.Glu231Val
NM_001289156.2:c.542A>T NP_001276085.1:p.Glu181Val
NM_001289157.2:c.509A>T NP_001276086.1:p.Glu170Val
NM_001330372.2:c.632A>T NP_001317301.1:p.Glu211Val