Canonical Allele Identifier: CA393173483
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74892733A>C , CM000677.2:g.74892733A>C GRCh38
NC_000015.9:g.75185074A>C , CM000677.1:g.75185074A>C GRCh37
NC_000015.8:g.72972127A>C NCBI36
NG_008921.1:g.7665A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.418A>C MANE Select ENSP00000318318.6:p.Ile140Leu
ENST00000323744.10:c.418A>C ENSP00000318192.6:p.Ile140Leu
ENST00000352410.8:c.418A>C ENSP00000318318.6:p.Ile140Leu
ENST00000535694.5:c.268A>C ENSP00000440447.1:p.Ile90Leu
ENST00000561470.5:c.*314A>C ENSP00000454267.1:n.*314A>C
ENST00000562606.5:c.358A>C ENSP00000457020.1:p.Ile120Leu
ENST00000562800.5:c.255+1244A>C ENSP00000457619.1:n.255+1244A>C
ENST00000563422.5:c.418A>C ENSP00000457885.1:p.Ile140Leu
ENST00000563786.5:c.358A>C ENSP00000455241.1:p.Ile120Leu
ENST00000564003.5:c.268A>C ENSP00000454312.1:p.Ile90Leu
ENST00000564633.5:c.358A>C ENSP00000455383.1:p.Ile120Leu
ENST00000565576.5:c.418A>C ENSP00000454619.1:p.Ile140Leu
ENST00000566377.5:c.418A>C ENSP00000455405.1:p.Ile140Leu
ENST00000567116.5:n.449A>C
ENST00000567132.5:c.376A>C ENSP00000455972.1:p.Ile126Leu
ENST00000567177.1:c.379A>C ENSP00000457013.1:p.Ile127Leu
ENST00000567570.5:c.358A>C
ENST00000568828.5:c.382A>C ENSP00000455065.1:p.Ile128Leu
ENST00000568840.1:n.527A>C
ENST00000568907.5:c.328A>C ENSP00000457494.1:p.Ile110Leu
ENST00000569233.5:c.475A>C ENSP00000454622.1:p.Ile159Leu
ENST00000569931.5:c.358A>C ENSP00000455161.1:p.Ile120Leu
NM_001289155.1:c.418A>C NP_001276084.1:p.Ile140Leu
NM_001289156.1:c.268A>C NP_001276085.1:p.Ile90Leu
NM_001289157.1:c.418A>C NP_001276086.1:p.Ile140Leu
NM_002435.2:c.418A>C NP_002426.1:p.Ile140Leu
XM_011521592.1:c.406A>C XP_011519894.1:p.Ile136Leu
XM_011521593.1:c.358A>C XP_011519895.1:p.Ile120Leu
NM_001330372.1:c.358A>C NP_001317301.1:p.Ile120Leu
XM_017022208.1:c.358A>C XP_016877697.1:p.Ile120Leu
XM_017022209.2:c.268A>C XP_016877698.1:p.Ile90Leu
NM_002435.3:c.418A>C MANE Select NP_002426.1:p.Ile140Leu
NM_001289155.2:c.418A>C NP_001276084.1:p.Ile140Leu
NM_001289156.2:c.268A>C NP_001276085.1:p.Ile90Leu
NM_001289157.2:c.418A>C NP_001276086.1:p.Ile140Leu
NM_001330372.2:c.358A>C NP_001317301.1:p.Ile120Leu