Canonical Allele Identifier: CA393176115
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896320A>T , CM000677.2:g.74896320A>T GRCh38
NC_000015.9:g.75188661A>T , CM000677.1:g.75188661A>T GRCh37
NC_000015.8:g.72975714A>T NCBI36
NG_008921.1:g.11252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.839A>T MANE Select ENSP00000318318.6:p.Lys280Ile
ENST00000323744.10:c.656A>T ENSP00000318192.6:p.Lys219Ile
ENST00000352410.8:c.839A>T ENSP00000318318.6:p.Lys280Ile
ENST00000535694.5:c.689A>T ENSP00000440447.1:p.Lys230Ile
ENST00000562606.5:c.779A>T ENSP00000457020.1:p.Lys260Ile
ENST00000562800.5:c.256-1219A>T ENSP00000457619.1:n.256-1219A>T
ENST00000563422.5:c.839A>T ENSP00000457885.1:p.Lys280Ile
ENST00000563786.5:c.779A>T ENSP00000455241.1:p.Lys260Ile
ENST00000564003.5:c.506A>T ENSP00000454312.1:p.Lys169Ile
ENST00000566377.5:c.839A>T ENSP00000455405.1:p.Lys280Ile
ENST00000566556.1:n.887A>T
ENST00000567177.1:c.617A>T ENSP00000457013.1:p.Lys206Ile
ENST00000569931.5:c.779A>T ENSP00000455161.1:p.Lys260Ile
NM_001289155.1:c.839A>T NP_001276084.1:p.Lys280Ile
NM_001289156.1:c.689A>T NP_001276085.1:p.Lys230Ile
NM_001289157.1:c.656A>T NP_001276086.1:p.Lys219Ile
NM_002435.2:c.839A>T NP_002426.1:p.Lys280Ile
XM_011521592.1:c.827A>T XP_011519894.1:p.Lys276Ile
XM_011521593.1:c.779A>T XP_011519895.1:p.Lys260Ile
NM_001330372.1:c.779A>T NP_001317301.1:p.Lys260Ile
XM_017022208.1:c.779A>T XP_016877697.1:p.Lys260Ile
XM_017022209.2:c.689A>T XP_016877698.1:p.Lys230Ile
NM_002435.3:c.839A>T MANE Select NP_002426.1:p.Lys280Ile
NM_001289155.2:c.839A>T NP_001276084.1:p.Lys280Ile
NM_001289156.2:c.689A>T NP_001276085.1:p.Lys230Ile
NM_001289157.2:c.656A>T NP_001276086.1:p.Lys219Ile
NM_001330372.2:c.779A>T NP_001317301.1:p.Lys260Ile