Canonical Allele Identifier: CA393176055
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896290T>A , CM000677.2:g.74896290T>A GRCh38
NC_000015.9:g.75188631T>A , CM000677.1:g.75188631T>A GRCh37
NC_000015.8:g.72975684T>A NCBI36
NG_008921.1:g.11222T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.809T>A MANE Select ENSP00000318318.6:p.Leu270Gln
ENST00000323744.10:c.626T>A ENSP00000318192.6:p.Leu209Gln
ENST00000352410.8:c.809T>A ENSP00000318318.6:p.Leu270Gln
ENST00000535694.5:c.659T>A ENSP00000440447.1:p.Leu220Gln
ENST00000562606.5:c.749T>A ENSP00000457020.1:p.Leu250Gln
ENST00000562800.5:c.256-1249T>A ENSP00000457619.1:n.256-1249T>A
ENST00000563422.5:c.809T>A ENSP00000457885.1:p.Leu270Gln
ENST00000563786.5:c.749T>A ENSP00000455241.1:p.Leu250Gln
ENST00000564003.5:c.476T>A ENSP00000454312.1:p.Leu159Gln
ENST00000566377.5:c.809T>A ENSP00000455405.1:p.Leu270Gln
ENST00000566556.1:n.857T>A
ENST00000567177.1:c.587T>A ENSP00000457013.1:p.Leu196Gln
ENST00000569931.5:c.749T>A ENSP00000455161.1:p.Leu250Gln
NM_001289155.1:c.809T>A NP_001276084.1:p.Leu270Gln
NM_001289156.1:c.659T>A NP_001276085.1:p.Leu220Gln
NM_001289157.1:c.626T>A NP_001276086.1:p.Leu209Gln
NM_002435.2:c.809T>A NP_002426.1:p.Leu270Gln
XM_011521592.1:c.797T>A XP_011519894.1:p.Leu266Gln
XM_011521593.1:c.749T>A XP_011519895.1:p.Leu250Gln
NM_001330372.1:c.749T>A NP_001317301.1:p.Leu250Gln
XM_017022208.1:c.749T>A XP_016877697.1:p.Leu250Gln
XM_017022209.2:c.659T>A XP_016877698.1:p.Leu220Gln
NM_002435.3:c.809T>A MANE Select NP_002426.1:p.Leu270Gln
NM_001289155.2:c.809T>A NP_001276084.1:p.Leu270Gln
NM_001289156.2:c.659T>A NP_001276085.1:p.Leu220Gln
NM_001289157.2:c.626T>A NP_001276086.1:p.Leu209Gln
NM_001330372.2:c.749T>A NP_001317301.1:p.Leu250Gln