Canonical Allele Identifier: CA393173476
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74892730G>A , CM000677.2:g.74892730G>A GRCh38
NC_000015.9:g.75185071G>A , CM000677.1:g.75185071G>A GRCh37
NC_000015.8:g.72972124G>A NCBI36
NG_008921.1:g.7662G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.415G>A MANE Select ENSP00000318318.6:p.Ala139Thr
ENST00000323744.10:c.415G>A ENSP00000318192.6:p.Ala139Thr
ENST00000352410.8:c.415G>A ENSP00000318318.6:p.Ala139Thr
ENST00000535694.5:c.265G>A ENSP00000440447.1:p.Ala89Thr
ENST00000561470.5:c.*311G>A ENSP00000454267.1:n.*311G>A
ENST00000562606.5:c.355G>A ENSP00000457020.1:p.Ala119Thr
ENST00000562800.5:c.255+1241G>A ENSP00000457619.1:n.255+1241G>A
ENST00000563422.5:c.415G>A ENSP00000457885.1:p.Ala139Thr
ENST00000563786.5:c.355G>A ENSP00000455241.1:p.Ala119Thr
ENST00000564003.5:c.265G>A ENSP00000454312.1:p.Ala89Thr
ENST00000564633.5:c.355G>A ENSP00000455383.1:p.Ala119Thr
ENST00000565576.5:c.415G>A ENSP00000454619.1:p.Ala139Thr
ENST00000566377.5:c.415G>A ENSP00000455405.1:p.Ala139Thr
ENST00000567116.5:n.446G>A
ENST00000567132.5:c.373G>A ENSP00000455972.1:p.Ala125Thr
ENST00000567177.1:c.376G>A ENSP00000457013.1:p.Ala126Thr
ENST00000567570.5:c.355G>A ENSP00000455477.1:p.Ala119Thr
ENST00000568828.5:c.379G>A ENSP00000455065.1:p.Ala127Thr
ENST00000568840.1:n.524G>A
ENST00000568907.5:c.325G>A ENSP00000457494.1:p.Ala109Thr
ENST00000569233.5:c.472G>A ENSP00000454622.1:p.Ala158Thr
ENST00000569931.5:c.355G>A ENSP00000455161.1:p.Ala119Thr
NM_001289155.1:c.415G>A NP_001276084.1:p.Ala139Thr
NM_001289156.1:c.265G>A NP_001276085.1:p.Ala89Thr
NM_001289157.1:c.415G>A NP_001276086.1:p.Ala139Thr
NM_002435.2:c.415G>A NP_002426.1:p.Ala139Thr
XM_011521592.1:c.403G>A XP_011519894.1:p.Ala135Thr
XM_011521593.1:c.355G>A XP_011519895.1:p.Ala119Thr
NM_001330372.1:c.355G>A NP_001317301.1:p.Ala119Thr
XM_017022208.1:c.355G>A XP_016877697.1:p.Ala119Thr
XM_017022209.2:c.265G>A XP_016877698.1:p.Ala89Thr
NM_002435.3:c.415G>A MANE Select NP_002426.1:p.Ala139Thr
NM_001289155.2:c.415G>A NP_001276084.1:p.Ala139Thr
NM_001289156.2:c.265G>A NP_001276085.1:p.Ala89Thr
NM_001289157.2:c.415G>A NP_001276086.1:p.Ala139Thr
NM_001330372.2:c.355G>A NP_001317301.1:p.Ala119Thr