Canonical Allele Identifier: CA491491411
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 1958118
ClinVar RCV Id: RCV002725381
dbSNP Id: rs746276252

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896246C>T , CM000677.2:g.74896246C>T GRCh38
NC_000015.9:g.75188587C>T , CM000677.1:g.75188587C>T GRCh37
NC_000015.8:g.72975640C>T NCBI36
NG_008921.1:g.11178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.765C>T MANE Select ENSP00000318318.6:p.Tyr255=
ENST00000323744.10:c.582C>T ENSP00000318192.6:p.Tyr194=
ENST00000352410.8:c.765C>T ENSP00000318318.6:p.Tyr255=
ENST00000535694.5:c.615C>T ENSP00000440447.1:p.Tyr205=
ENST00000562606.5:c.705C>T ENSP00000457020.1:p.Tyr235=
ENST00000562800.5:c.256-1293C>T ENSP00000457619.1:n.256-1293C>T
ENST00000563422.5:c.765C>T ENSP00000457885.1:p.Tyr255=
ENST00000563786.5:c.705C>T ENSP00000455241.1:p.Tyr235=
ENST00000564003.5:c.432C>T ENSP00000454312.1:p.Tyr144=
ENST00000566377.5:c.765C>T ENSP00000455405.1:p.Tyr255=
ENST00000566556.1:n.813C>T
ENST00000567177.1:c.543C>T ENSP00000457013.1:p.Tyr181=
ENST00000569931.5:c.705C>T ENSP00000455161.1:p.Tyr235=
NM_001289155.1:c.765C>T NP_001276084.1:p.Tyr255=
NM_001289156.1:c.615C>T NP_001276085.1:p.Tyr205=
NM_001289157.1:c.582C>T NP_001276086.1:p.Tyr194=
NM_002435.2:c.765C>T NP_002426.1:p.Tyr255=
XM_011521592.1:c.753C>T XP_011519894.1:p.Tyr251=
XM_011521593.1:c.705C>T XP_011519895.1:p.Tyr235=
NM_001330372.1:c.705C>T NP_001317301.1:p.Tyr235=
XM_017022208.1:c.705C>T XP_016877697.1:p.Tyr235=
XM_017022209.2:c.615C>T XP_016877698.1:p.Tyr205=
NM_002435.3:c.765C>T MANE Select NP_002426.1:p.Tyr255=
NM_001289155.2:c.765C>T NP_001276084.1:p.Tyr255=
NM_001289156.2:c.615C>T NP_001276085.1:p.Tyr205=
NM_001289157.2:c.582C>T NP_001276086.1:p.Tyr194=
NM_001330372.2:c.705C>T NP_001317301.1:p.Tyr235=