Canonical Allele Identifier: CA393175926
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896230G>T , CM000677.2:g.74896230G>T GRCh38
NC_000015.9:g.75188571G>T , CM000677.1:g.75188571G>T GRCh37
NC_000015.8:g.72975624G>T NCBI36
NG_008921.1:g.11162G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.749G>T MANE Select ENSP00000318318.6:p.Gly250Val
ENST00000323744.10:c.566G>T ENSP00000318192.6:p.Gly189Val
ENST00000352410.8:c.749G>T ENSP00000318318.6:p.Gly250Val
ENST00000535694.5:c.599G>T ENSP00000440447.1:p.Gly200Val
ENST00000562606.5:c.689G>T ENSP00000457020.1:p.Gly230Val
ENST00000562800.5:c.256-1309G>T ENSP00000457619.1:n.256-1309G>T
ENST00000563422.5:c.749G>T ENSP00000457885.1:p.Gly250Val
ENST00000563786.5:c.689G>T ENSP00000455241.1:p.Gly230Val
ENST00000564003.5:c.416G>T ENSP00000454312.1:p.Gly139Val
ENST00000566377.5:c.749G>T ENSP00000455405.1:p.Gly250Val
ENST00000566556.1:n.797G>T
ENST00000567177.1:c.527G>T ENSP00000457013.1:p.Gly176Val
ENST00000569931.5:c.689G>T ENSP00000455161.1:p.Gly230Val
NM_001289155.1:c.749G>T NP_001276084.1:p.Gly250Val
NM_001289156.1:c.599G>T NP_001276085.1:p.Gly200Val
NM_001289157.1:c.566G>T NP_001276086.1:p.Gly189Val
NM_002435.2:c.749G>T NP_002426.1:p.Gly250Val
XM_011521592.1:c.737G>T XP_011519894.1:p.Gly246Val
XM_011521593.1:c.689G>T XP_011519895.1:p.Gly230Val
NM_001330372.1:c.689G>T NP_001317301.1:p.Gly230Val
XM_017022208.1:c.689G>T XP_016877697.1:p.Gly230Val
XM_017022209.2:c.599G>T XP_016877698.1:p.Gly200Val
NM_002435.3:c.749G>T MANE Select NP_002426.1:p.Gly250Val
NM_001289155.2:c.749G>T NP_001276084.1:p.Gly250Val
NM_001289156.2:c.599G>T NP_001276085.1:p.Gly200Val
NM_001289157.2:c.566G>T NP_001276086.1:p.Gly189Val
NM_001330372.2:c.689G>T NP_001317301.1:p.Gly230Val