Canonical Allele Identifier: CA393176108
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896317T>A , CM000677.2:g.74896317T>A GRCh38
NC_000015.9:g.75188658T>A , CM000677.1:g.75188658T>A GRCh37
NC_000015.8:g.72975711T>A NCBI36
NG_008921.1:g.11249T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.836T>A MANE Select ENSP00000318318.6:p.Leu279Gln
ENST00000323744.10:c.653T>A ENSP00000318192.6:p.Leu218Gln
ENST00000352410.8:c.836T>A ENSP00000318318.6:p.Leu279Gln
ENST00000535694.5:c.686T>A ENSP00000440447.1:p.Leu229Gln
ENST00000562606.5:c.776T>A ENSP00000457020.1:p.Leu259Gln
ENST00000562800.5:c.256-1222T>A ENSP00000457619.1:n.256-1222T>A
ENST00000563422.5:c.836T>A ENSP00000457885.1:p.Leu279Gln
ENST00000563786.5:c.776T>A ENSP00000455241.1:p.Leu259Gln
ENST00000564003.5:c.503T>A ENSP00000454312.1:p.Leu168Gln
ENST00000566377.5:c.836T>A ENSP00000455405.1:p.Leu279Gln
ENST00000566556.1:n.884T>A
ENST00000567177.1:c.614T>A ENSP00000457013.1:p.Leu205Gln
ENST00000569931.5:c.776T>A ENSP00000455161.1:p.Leu259Gln
NM_001289155.1:c.836T>A NP_001276084.1:p.Leu279Gln
NM_001289156.1:c.686T>A NP_001276085.1:p.Leu229Gln
NM_001289157.1:c.653T>A NP_001276086.1:p.Leu218Gln
NM_002435.2:c.836T>A NP_002426.1:p.Leu279Gln
XM_011521592.1:c.824T>A XP_011519894.1:p.Leu275Gln
XM_011521593.1:c.776T>A XP_011519895.1:p.Leu259Gln
NM_001330372.1:c.776T>A NP_001317301.1:p.Leu259Gln
XM_017022208.1:c.776T>A XP_016877697.1:p.Leu259Gln
XM_017022209.2:c.686T>A XP_016877698.1:p.Leu229Gln
NM_002435.3:c.836T>A MANE Select NP_002426.1:p.Leu279Gln
NM_001289155.2:c.836T>A NP_001276084.1:p.Leu279Gln
NM_001289156.2:c.686T>A NP_001276085.1:p.Leu229Gln
NM_001289157.2:c.653T>A NP_001276086.1:p.Leu218Gln
NM_001330372.2:c.776T>A NP_001317301.1:p.Leu259Gln