Canonical Allele Identifier: CA393175760
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896154G>A , CM000677.2:g.74896154G>A GRCh38
NC_000015.9:g.75188495G>A , CM000677.1:g.75188495G>A GRCh37
NC_000015.8:g.72975548G>A NCBI36
NG_008921.1:g.11086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.673G>A MANE Select ENSP00000318318.6:p.Ala225Thr
ENST00000323744.10:c.490G>A ENSP00000318192.6:p.Ala164Thr
ENST00000352410.8:c.673G>A ENSP00000318318.6:p.Ala225Thr
ENST00000535694.5:c.523G>A ENSP00000440447.1:p.Ala175Thr
ENST00000561470.5:c.*569G>A ENSP00000454267.1:n.*569G>A
ENST00000562606.5:c.613G>A ENSP00000457020.1:p.Ala205Thr
ENST00000562800.5:c.256-1385G>A ENSP00000457619.1:n.256-1385G>A
ENST00000563422.5:c.673G>A ENSP00000457885.1:p.Ala225Thr
ENST00000563786.5:c.613G>A ENSP00000455241.1:p.Ala205Thr
ENST00000564003.5:c.340G>A ENSP00000454312.1:p.Ala114Thr
ENST00000566377.5:c.673G>A ENSP00000455405.1:p.Ala225Thr
ENST00000566556.1:n.721G>A
ENST00000567177.1:c.451G>A ENSP00000457013.1:p.Ala151Thr
ENST00000569931.5:c.613G>A ENSP00000455161.1:p.Ala205Thr
NM_001289155.1:c.673G>A NP_001276084.1:p.Ala225Thr
NM_001289156.1:c.523G>A NP_001276085.1:p.Ala175Thr
NM_001289157.1:c.490G>A NP_001276086.1:p.Ala164Thr
NM_002435.2:c.673G>A NP_002426.1:p.Ala225Thr
XM_011521592.1:c.661G>A XP_011519894.1:p.Ala221Thr
XM_011521593.1:c.613G>A XP_011519895.1:p.Ala205Thr
NM_001330372.1:c.613G>A NP_001317301.1:p.Ala205Thr
XM_017022208.1:c.613G>A XP_016877697.1:p.Ala205Thr
XM_017022209.2:c.523G>A XP_016877698.1:p.Ala175Thr
NM_002435.3:c.673G>A MANE Select NP_002426.1:p.Ala225Thr
NM_001289155.2:c.673G>A NP_001276084.1:p.Ala225Thr
NM_001289156.2:c.523G>A NP_001276085.1:p.Ala175Thr
NM_001289157.2:c.490G>A NP_001276086.1:p.Ala164Thr
NM_001330372.2:c.613G>A NP_001317301.1:p.Ala205Thr