Canonical Allele Identifier: CA393176003
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896266T>G , CM000677.2:g.74896266T>G GRCh38
NC_000015.9:g.75188607T>G , CM000677.1:g.75188607T>G GRCh37
NC_000015.8:g.72975660T>G NCBI36
NG_008921.1:g.11198T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.785T>G MANE Select ENSP00000318318.6:p.Leu262Arg
ENST00000323744.10:c.602T>G ENSP00000318192.6:p.Leu201Arg
ENST00000352410.8:c.785T>G ENSP00000318318.6:p.Leu262Arg
ENST00000535694.5:c.635T>G ENSP00000440447.1:p.Leu212Arg
ENST00000562606.5:c.725T>G ENSP00000457020.1:p.Leu242Arg
ENST00000562800.5:c.256-1273T>G ENSP00000457619.1:n.256-1273T>G
ENST00000563422.5:c.785T>G ENSP00000457885.1:p.Leu262Arg
ENST00000563786.5:c.725T>G ENSP00000455241.1:p.Leu242Arg
ENST00000564003.5:c.452T>G ENSP00000454312.1:p.Leu151Arg
ENST00000566377.5:c.785T>G ENSP00000455405.1:p.Leu262Arg
ENST00000566556.1:n.833T>G
ENST00000567177.1:c.563T>G ENSP00000457013.1:p.Leu188Arg
ENST00000569931.5:c.725T>G ENSP00000455161.1:p.Leu242Arg
NM_001289155.1:c.785T>G NP_001276084.1:p.Leu262Arg
NM_001289156.1:c.635T>G NP_001276085.1:p.Leu212Arg
NM_001289157.1:c.602T>G NP_001276086.1:p.Leu201Arg
NM_002435.2:c.785T>G NP_002426.1:p.Leu262Arg
XM_011521592.1:c.773T>G XP_011519894.1:p.Leu258Arg
XM_011521593.1:c.725T>G XP_011519895.1:p.Leu242Arg
NM_001330372.1:c.725T>G NP_001317301.1:p.Leu242Arg
XM_017022208.1:c.725T>G XP_016877697.1:p.Leu242Arg
XM_017022209.2:c.635T>G XP_016877698.1:p.Leu212Arg
NM_002435.3:c.785T>G MANE Select NP_002426.1:p.Leu262Arg
NM_001289155.2:c.785T>G NP_001276084.1:p.Leu262Arg
NM_001289156.2:c.635T>G NP_001276085.1:p.Leu212Arg
NM_001289157.2:c.602T>G NP_001276086.1:p.Leu201Arg
NM_001330372.2:c.725T>G NP_001317301.1:p.Leu242Arg