Canonical Allele Identifier: CA393175767
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896157G>C , CM000677.2:g.74896157G>C GRCh38
NC_000015.9:g.75188498G>C , CM000677.1:g.75188498G>C GRCh37
NC_000015.8:g.72975551G>C NCBI36
NG_008921.1:g.11089G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.676G>C MANE Select ENSP00000318318.6:p.Ala226Pro
ENST00000323744.10:c.493G>C ENSP00000318192.6:p.Ala165Pro
ENST00000352410.8:c.676G>C ENSP00000318318.6:p.Ala226Pro
ENST00000535694.5:c.526G>C ENSP00000440447.1:p.Ala176Pro
ENST00000561470.5:c.*572G>C ENSP00000454267.1:n.*572G>C
ENST00000562606.5:c.616G>C ENSP00000457020.1:p.Ala206Pro
ENST00000562800.5:c.256-1382G>C ENSP00000457619.1:n.256-1382G>C
ENST00000563422.5:c.676G>C ENSP00000457885.1:p.Ala226Pro
ENST00000563786.5:c.616G>C ENSP00000455241.1:p.Ala206Pro
ENST00000564003.5:c.343G>C ENSP00000454312.1:p.Ala115Pro
ENST00000566377.5:c.676G>C ENSP00000455405.1:p.Ala226Pro
ENST00000566556.1:n.724G>C
ENST00000567177.1:c.454G>C ENSP00000457013.1:p.Ala152Pro
ENST00000569931.5:c.616G>C ENSP00000455161.1:p.Ala206Pro
NM_001289155.1:c.676G>C NP_001276084.1:p.Ala226Pro
NM_001289156.1:c.526G>C NP_001276085.1:p.Ala176Pro
NM_001289157.1:c.493G>C NP_001276086.1:p.Ala165Pro
NM_002435.2:c.676G>C NP_002426.1:p.Ala226Pro
XM_011521592.1:c.664G>C XP_011519894.1:p.Ala222Pro
XM_011521593.1:c.616G>C XP_011519895.1:p.Ala206Pro
NM_001330372.1:c.616G>C NP_001317301.1:p.Ala206Pro
XM_017022208.1:c.616G>C XP_016877697.1:p.Ala206Pro
XM_017022209.2:c.526G>C XP_016877698.1:p.Ala176Pro
NM_002435.3:c.676G>C MANE Select NP_002426.1:p.Ala226Pro
NM_001289155.2:c.676G>C NP_001276084.1:p.Ala226Pro
NM_001289156.2:c.526G>C NP_001276085.1:p.Ala176Pro
NM_001289157.2:c.493G>C NP_001276086.1:p.Ala165Pro
NM_001330372.2:c.616G>C NP_001317301.1:p.Ala206Pro