Canonical Allele Identifier: CA393176053
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896289C>G , CM000677.2:g.74896289C>G GRCh38
NC_000015.9:g.75188630C>G , CM000677.1:g.75188630C>G GRCh37
NC_000015.8:g.72975683C>G NCBI36
NG_008921.1:g.11221C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.808C>G MANE Select ENSP00000318318.6:p.Leu270Val
ENST00000323744.10:c.625C>G ENSP00000318192.6:p.Leu209Val
ENST00000352410.8:c.808C>G ENSP00000318318.6:p.Leu270Val
ENST00000535694.5:c.658C>G ENSP00000440447.1:p.Leu220Val
ENST00000562606.5:c.748C>G ENSP00000457020.1:p.Leu250Val
ENST00000562800.5:c.256-1250C>G ENSP00000457619.1:n.256-1250C>G
ENST00000563422.5:c.808C>G ENSP00000457885.1:p.Leu270Val
ENST00000563786.5:c.748C>G ENSP00000455241.1:p.Leu250Val
ENST00000564003.5:c.475C>G ENSP00000454312.1:p.Leu159Val
ENST00000566377.5:c.808C>G ENSP00000455405.1:p.Leu270Val
ENST00000566556.1:n.856C>G
ENST00000567177.1:c.586C>G ENSP00000457013.1:p.Leu196Val
ENST00000569931.5:c.748C>G ENSP00000455161.1:p.Leu250Val
NM_001289155.1:c.808C>G NP_001276084.1:p.Leu270Val
NM_001289156.1:c.658C>G NP_001276085.1:p.Leu220Val
NM_001289157.1:c.625C>G NP_001276086.1:p.Leu209Val
NM_002435.2:c.808C>G NP_002426.1:p.Leu270Val
XM_011521592.1:c.796C>G XP_011519894.1:p.Leu266Val
XM_011521593.1:c.748C>G XP_011519895.1:p.Leu250Val
NM_001330372.1:c.748C>G NP_001317301.1:p.Leu250Val
XM_017022208.1:c.748C>G XP_016877697.1:p.Leu250Val
XM_017022209.2:c.658C>G XP_016877698.1:p.Leu220Val
NM_002435.3:c.808C>G MANE Select NP_002426.1:p.Leu270Val
NM_001289155.2:c.808C>G NP_001276084.1:p.Leu270Val
NM_001289156.2:c.658C>G NP_001276085.1:p.Leu220Val
NM_001289157.2:c.625C>G NP_001276086.1:p.Leu209Val
NM_001330372.2:c.748C>G NP_001317301.1:p.Leu250Val