Canonical Allele Identifier: CA393177382
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74897067A>G , CM000677.2:g.74897067A>G GRCh38
NC_000015.9:g.75189408A>G , CM000677.1:g.75189408A>G GRCh37
NC_000015.8:g.72976461A>G NCBI36
NG_008921.1:g.11999A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.901A>G MANE Select ENSP00000318318.6:p.Lys301Glu
ENST00000323744.10:c.718A>G ENSP00000318192.6:p.Lys240Glu
ENST00000352410.8:c.901A>G ENSP00000318318.6:p.Lys301Glu
ENST00000535694.5:c.751A>G ENSP00000440447.1:p.Lys251Glu
ENST00000562800.5:c.256-472A>G ENSP00000457619.1:n.256-472A>G
ENST00000563786.5:c.841A>G ENSP00000455241.1:p.Lys281Glu
ENST00000566377.5:c.845-445A>G ENSP00000455405.1:n.845-445A>G
ENST00000566556.1:n.1634A>G
ENST00000567177.1:c.623-445A>G ENSP00000457013.1:n.623-445A>G
ENST00000569931.5:c.841A>G ENSP00000455161.1:p.Lys281Glu
NM_001289155.1:c.845-445A>G NP_001276084.1:n.845-445A>G
NM_001289156.1:c.751A>G NP_001276085.1:p.Lys251Glu
NM_001289157.1:c.718A>G NP_001276086.1:p.Lys240Glu
NM_002435.2:c.901A>G NP_002426.1:p.Lys301Glu
XM_011521592.1:c.889A>G XP_011519894.1:p.Lys297Glu
XM_011521593.1:c.841A>G XP_011519895.1:p.Lys281Glu
NM_001330372.1:c.841A>G NP_001317301.1:p.Lys281Glu
XM_017022208.1:c.785-445A>G XP_016877697.1:n.785-445A>G
XM_017022209.2:c.695-445A>G XP_016877698.1:n.695-445A>G
NM_002435.3:c.901A>G MANE Select NP_002426.1:p.Lys301Glu
NM_001289155.2:c.845-445A>G NP_001276084.1:n.845-445A>G
NM_001289156.2:c.751A>G NP_001276085.1:p.Lys251Glu
NM_001289157.2:c.718A>G NP_001276086.1:p.Lys240Glu
NM_001330372.2:c.841A>G NP_001317301.1:p.Lys281Glu