Canonical Allele Identifier: CA393175950
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896242T>A , CM000677.2:g.74896242T>A GRCh38
NC_000015.9:g.75188583T>A , CM000677.1:g.75188583T>A GRCh37
NC_000015.8:g.72975636T>A NCBI36
NG_008921.1:g.11174T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.761T>A MANE Select ENSP00000318318.6:p.Ile254Asn
ENST00000323744.10:c.578T>A ENSP00000318192.6:p.Ile193Asn
ENST00000352410.8:c.761T>A ENSP00000318318.6:p.Ile254Asn
ENST00000535694.5:c.611T>A ENSP00000440447.1:p.Ile204Asn
ENST00000562606.5:c.701T>A ENSP00000457020.1:p.Ile234Asn
ENST00000562800.5:c.256-1297T>A ENSP00000457619.1:n.256-1297T>A
ENST00000563422.5:c.761T>A ENSP00000457885.1:p.Ile254Asn
ENST00000563786.5:c.701T>A ENSP00000455241.1:p.Ile234Asn
ENST00000564003.5:c.428T>A ENSP00000454312.1:p.Ile143Asn
ENST00000566377.5:c.761T>A ENSP00000455405.1:p.Ile254Asn
ENST00000566556.1:n.809T>A
ENST00000567177.1:c.539T>A ENSP00000457013.1:p.Ile180Asn
ENST00000569931.5:c.701T>A ENSP00000455161.1:p.Ile234Asn
NM_001289155.1:c.761T>A NP_001276084.1:p.Ile254Asn
NM_001289156.1:c.611T>A NP_001276085.1:p.Ile204Asn
NM_001289157.1:c.578T>A NP_001276086.1:p.Ile193Asn
NM_002435.2:c.761T>A NP_002426.1:p.Ile254Asn
XM_011521592.1:c.749T>A XP_011519894.1:p.Ile250Asn
XM_011521593.1:c.701T>A XP_011519895.1:p.Ile234Asn
NM_001330372.1:c.701T>A NP_001317301.1:p.Ile234Asn
XM_017022208.1:c.701T>A XP_016877697.1:p.Ile234Asn
XM_017022209.2:c.611T>A XP_016877698.1:p.Ile204Asn
NM_002435.3:c.761T>A MANE Select NP_002426.1:p.Ile254Asn
NM_001289155.2:c.761T>A NP_001276084.1:p.Ile254Asn
NM_001289156.2:c.611T>A NP_001276085.1:p.Ile204Asn
NM_001289157.2:c.578T>A NP_001276086.1:p.Ile193Asn
NM_001330372.2:c.701T>A NP_001317301.1:p.Ile234Asn