Canonical Allele Identifier: CA393174512
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74893219T>A , CM000677.2:g.74893219T>A GRCh38
NC_000015.9:g.75185560T>A , CM000677.1:g.75185560T>A GRCh37
NC_000015.8:g.72972613T>A NCBI36
NG_008921.1:g.8151T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.569T>A MANE Select ENSP00000318318.6:p.Val190Glu
ENST00000323744.10:c.487+417T>A ENSP00000318192.6:n.487+417T>A
ENST00000352410.8:c.569T>A ENSP00000318318.6:p.Val190Glu
ENST00000535694.5:c.419T>A ENSP00000440447.1:p.Val140Glu
ENST00000561470.5:c.*465T>A ENSP00000454267.1:n.*465T>A
ENST00000562606.5:c.509T>A ENSP00000457020.1:p.Val170Glu
ENST00000562800.5:c.255+1730T>A ENSP00000457619.1:n.255+1730T>A
ENST00000563422.5:c.569T>A ENSP00000457885.1:p.Val190Glu
ENST00000563786.5:c.509T>A ENSP00000455241.1:p.Val170Glu
ENST00000564003.5:c.337+417T>A ENSP00000454312.1:n.337+417T>A
ENST00000564633.5:c.509T>A ENSP00000455383.1:p.Val170Glu
ENST00000565576.5:c.569T>A ENSP00000454619.1:p.Val190Glu
ENST00000566377.5:c.569T>A ENSP00000455405.1:p.Val190Glu
ENST00000567132.5:c.527T>A
ENST00000567177.1:c.448+417T>A ENSP00000457013.1:n.448+417T>A
ENST00000568828.5:c.533T>A ENSP00000455065.1:p.Val178Glu
ENST00000568907.5:c.479T>A ENSP00000457494.1:p.Val160Glu
ENST00000569931.5:c.509T>A ENSP00000455161.1:p.Val170Glu
NM_001289155.1:c.569T>A NP_001276084.1:p.Val190Glu
NM_001289156.1:c.419T>A NP_001276085.1:p.Val140Glu
NM_001289157.1:c.487+417T>A NP_001276086.1:n.487+417T>A
NM_002435.2:c.569T>A NP_002426.1:p.Val190Glu
XM_011521592.1:c.557T>A XP_011519894.1:p.Val186Glu
XM_011521593.1:c.509T>A XP_011519895.1:p.Val170Glu
NM_001330372.1:c.509T>A NP_001317301.1:p.Val170Glu
XM_017022208.1:c.509T>A XP_016877697.1:p.Val170Glu
XM_017022209.2:c.419T>A XP_016877698.1:p.Val140Glu
NM_002435.3:c.569T>A MANE Select NP_002426.1:p.Val190Glu
NM_001289155.2:c.569T>A NP_001276084.1:p.Val190Glu
NM_001289156.2:c.419T>A NP_001276085.1:p.Val140Glu
NM_001289157.2:c.487+417T>A NP_001276086.1:n.487+417T>A
NM_001330372.2:c.509T>A NP_001317301.1:p.Val170Glu