Canonical Allele Identifier: CA393176065
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896295G>A , CM000677.2:g.74896295G>A GRCh38
NC_000015.9:g.75188636G>A , CM000677.1:g.75188636G>A GRCh37
NC_000015.8:g.72975689G>A NCBI36
NG_008921.1:g.11227G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.814G>A MANE Select ENSP00000318318.6:p.Ala272Thr
ENST00000323744.10:c.631G>A ENSP00000318192.6:p.Ala211Thr
ENST00000352410.8:c.814G>A ENSP00000318318.6:p.Ala272Thr
ENST00000535694.5:c.664G>A ENSP00000440447.1:p.Ala222Thr
ENST00000562606.5:c.754G>A ENSP00000457020.1:p.Ala252Thr
ENST00000562800.5:c.256-1244G>A ENSP00000457619.1:n.256-1244G>A
ENST00000563422.5:c.814G>A ENSP00000457885.1:p.Ala272Thr
ENST00000563786.5:c.754G>A ENSP00000455241.1:p.Ala252Thr
ENST00000564003.5:c.481G>A ENSP00000454312.1:p.Ala161Thr
ENST00000566377.5:c.814G>A ENSP00000455405.1:p.Ala272Thr
ENST00000566556.1:n.862G>A
ENST00000567177.1:c.592G>A ENSP00000457013.1:p.Ala198Thr
ENST00000569931.5:c.754G>A ENSP00000455161.1:p.Ala252Thr
NM_001289155.1:c.814G>A NP_001276084.1:p.Ala272Thr
NM_001289156.1:c.664G>A NP_001276085.1:p.Ala222Thr
NM_001289157.1:c.631G>A NP_001276086.1:p.Ala211Thr
NM_002435.2:c.814G>A NP_002426.1:p.Ala272Thr
XM_011521592.1:c.802G>A XP_011519894.1:p.Ala268Thr
XM_011521593.1:c.754G>A XP_011519895.1:p.Ala252Thr
NM_001330372.1:c.754G>A NP_001317301.1:p.Ala252Thr
XM_017022208.1:c.754G>A XP_016877697.1:p.Ala252Thr
XM_017022209.2:c.664G>A XP_016877698.1:p.Ala222Thr
NM_002435.3:c.814G>A MANE Select NP_002426.1:p.Ala272Thr
NM_001289155.2:c.814G>A NP_001276084.1:p.Ala272Thr
NM_001289156.2:c.664G>A NP_001276085.1:p.Ala222Thr
NM_001289157.2:c.631G>A NP_001276086.1:p.Ala211Thr
NM_001330372.2:c.754G>A NP_001317301.1:p.Ala252Thr