Canonical Allele Identifier: CA393177422
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74897072C>G , CM000677.2:g.74897072C>G GRCh38
NC_000015.9:g.75189413C>G , CM000677.1:g.75189413C>G GRCh37
NC_000015.8:g.72976466C>G NCBI36
NG_008921.1:g.12004C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.906C>G MANE Select ENSP00000318318.6:p.Phe302Leu
ENST00000323744.10:c.723C>G ENSP00000318192.6:p.Phe241Leu
ENST00000352410.8:c.906C>G ENSP00000318318.6:p.Phe302Leu
ENST00000535694.5:c.756C>G ENSP00000440447.1:p.Phe252Leu
ENST00000562800.5:c.256-467C>G ENSP00000457619.1:n.256-467C>G
ENST00000563786.5:c.846C>G ENSP00000455241.1:p.Phe282Leu
ENST00000566377.5:c.845-440C>G ENSP00000455405.1:n.845-440C>G
ENST00000566556.1:n.1639C>G
ENST00000567177.1:c.623-440C>G ENSP00000457013.1:n.623-440C>G
ENST00000569931.5:c.846C>G ENSP00000455161.1:p.Phe282Leu
NM_001289155.1:c.845-440C>G NP_001276084.1:n.845-440C>G
NM_001289156.1:c.756C>G NP_001276085.1:p.Phe252Leu
NM_001289157.1:c.723C>G NP_001276086.1:p.Phe241Leu
NM_002435.2:c.906C>G NP_002426.1:p.Phe302Leu
XM_011521592.1:c.894C>G XP_011519894.1:p.Phe298Leu
XM_011521593.1:c.846C>G XP_011519895.1:p.Phe282Leu
NM_001330372.1:c.846C>G NP_001317301.1:p.Phe282Leu
XM_017022208.1:c.785-440C>G XP_016877697.1:n.785-440C>G
XM_017022209.2:c.695-440C>G XP_016877698.1:n.695-440C>G
NM_002435.3:c.906C>G MANE Select NP_002426.1:p.Phe302Leu
NM_001289155.2:c.845-440C>G NP_001276084.1:n.845-440C>G
NM_001289156.2:c.756C>G NP_001276085.1:p.Phe252Leu
NM_001289157.2:c.723C>G NP_001276086.1:p.Phe241Leu
NM_001330372.2:c.846C>G NP_001317301.1:p.Phe282Leu