Canonical Allele Identifier: CA393175832
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896187G>C , CM000677.2:g.74896187G>C GRCh38
NC_000015.9:g.75188528G>C , CM000677.1:g.75188528G>C GRCh37
NC_000015.8:g.72975581G>C NCBI36
NG_008921.1:g.11119G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.706G>C MANE Select ENSP00000318318.6:p.Glu236Gln
ENST00000323744.10:c.523G>C ENSP00000318192.6:p.Glu175Gln
ENST00000352410.8:c.706G>C ENSP00000318318.6:p.Glu236Gln
ENST00000535694.5:c.556G>C ENSP00000440447.1:p.Glu186Gln
ENST00000561470.5:c.*602G>C ENSP00000454267.1:n.*602G>C
ENST00000562606.5:c.646G>C ENSP00000457020.1:p.Glu216Gln
ENST00000562800.5:c.256-1352G>C ENSP00000457619.1:n.256-1352G>C
ENST00000563422.5:c.706G>C ENSP00000457885.1:p.Glu236Gln
ENST00000563786.5:c.646G>C ENSP00000455241.1:p.Glu216Gln
ENST00000564003.5:c.373G>C ENSP00000454312.1:p.Glu125Gln
ENST00000566377.5:c.706G>C ENSP00000455405.1:p.Glu236Gln
ENST00000566556.1:n.754G>C
ENST00000567177.1:c.484G>C ENSP00000457013.1:p.Glu162Gln
ENST00000569931.5:c.646G>C ENSP00000455161.1:p.Glu216Gln
NM_001289155.1:c.706G>C NP_001276084.1:p.Glu236Gln
NM_001289156.1:c.556G>C NP_001276085.1:p.Glu186Gln
NM_001289157.1:c.523G>C NP_001276086.1:p.Glu175Gln
NM_002435.2:c.706G>C NP_002426.1:p.Glu236Gln
XM_011521592.1:c.694G>C XP_011519894.1:p.Glu232Gln
XM_011521593.1:c.646G>C XP_011519895.1:p.Glu216Gln
NM_001330372.1:c.646G>C NP_001317301.1:p.Glu216Gln
XM_017022208.1:c.646G>C XP_016877697.1:p.Glu216Gln
XM_017022209.2:c.556G>C XP_016877698.1:p.Glu186Gln
NM_002435.3:c.706G>C MANE Select NP_002426.1:p.Glu236Gln
NM_001289155.2:c.706G>C NP_001276084.1:p.Glu236Gln
NM_001289156.2:c.556G>C NP_001276085.1:p.Glu186Gln
NM_001289157.2:c.523G>C NP_001276086.1:p.Glu175Gln
NM_001330372.2:c.646G>C NP_001317301.1:p.Glu216Gln