Canonical Allele Identifier: CA393175985
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896257T>G , CM000677.2:g.74896257T>G GRCh38
NC_000015.9:g.75188598T>G , CM000677.1:g.75188598T>G GRCh37
NC_000015.8:g.72975651T>G NCBI36
NG_008921.1:g.11189T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.776T>G MANE Select ENSP00000318318.6:p.Leu259Arg
ENST00000323744.10:c.593T>G ENSP00000318192.6:p.Leu198Arg
ENST00000352410.8:c.776T>G ENSP00000318318.6:p.Leu259Arg
ENST00000535694.5:c.626T>G ENSP00000440447.1:p.Leu209Arg
ENST00000562606.5:c.716T>G ENSP00000457020.1:p.Leu239Arg
ENST00000562800.5:c.256-1282T>G ENSP00000457619.1:n.256-1282T>G
ENST00000563422.5:c.776T>G ENSP00000457885.1:p.Leu259Arg
ENST00000563786.5:c.716T>G ENSP00000455241.1:p.Leu239Arg
ENST00000564003.5:c.443T>G ENSP00000454312.1:p.Leu148Arg
ENST00000566377.5:c.776T>G ENSP00000455405.1:p.Leu259Arg
ENST00000566556.1:n.824T>G
ENST00000567177.1:c.554T>G ENSP00000457013.1:p.Leu185Arg
ENST00000569931.5:c.716T>G ENSP00000455161.1:p.Leu239Arg
NM_001289155.1:c.776T>G NP_001276084.1:p.Leu259Arg
NM_001289156.1:c.626T>G NP_001276085.1:p.Leu209Arg
NM_001289157.1:c.593T>G NP_001276086.1:p.Leu198Arg
NM_002435.2:c.776T>G NP_002426.1:p.Leu259Arg
XM_011521592.1:c.764T>G XP_011519894.1:p.Leu255Arg
XM_011521593.1:c.716T>G XP_011519895.1:p.Leu239Arg
NM_001330372.1:c.716T>G NP_001317301.1:p.Leu239Arg
XM_017022208.1:c.716T>G XP_016877697.1:p.Leu239Arg
XM_017022209.2:c.626T>G XP_016877698.1:p.Leu209Arg
NM_002435.3:c.776T>G MANE Select NP_002426.1:p.Leu259Arg
NM_001289155.2:c.776T>G NP_001276084.1:p.Leu259Arg
NM_001289156.2:c.626T>G NP_001276085.1:p.Leu209Arg
NM_001289157.2:c.593T>G NP_001276086.1:p.Leu198Arg
NM_001330372.2:c.716T>G NP_001317301.1:p.Leu239Arg