Canonical Allele Identifier: CA2573151156
Gene: MPI HGNC NCBI

Linked Data

ClinVar Variation Id: 1444990
ClinVar RCV Id: RCV001982683
dbSNP Id: rs2141206676

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896226dup , CM000677.2:g.74896226dup GRCh38
NC_000015.9:g.75188567dup , CM000677.1:g.75188567dup GRCh37
NC_000015.8:g.72975620dup NCBI36
NG_008921.1:g.11158dup

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.745dup MANE Select ENSP00000318318.6:p.Ile249AsnfsTer?
ENST00000323744.10:c.562dup ENSP00000318192.6:p.Ile188AsnfsTer?
ENST00000352410.8:c.745dup ENSP00000318318.6:p.Ile249AsnfsTer?
ENST00000535694.5:c.595dup ENSP00000440447.1:p.Ile199AsnfsTer?
ENST00000562606.5:c.685dup ENSP00000457020.1:p.Ile229AsnfsTer?
ENST00000562800.5:c.256-1313dup ENSP00000457619.1:n.256-1313dup
ENST00000563422.5:c.745dup ENSP00000457885.1:p.Ile249AsnfsTer?
ENST00000563786.5:c.685dup ENSP00000455241.1:p.Ile229AsnfsTer?
ENST00000564003.5:c.412dup ENSP00000454312.1:p.Ile138AsnfsTer?
ENST00000566377.5:c.745dup ENSP00000455405.1:p.Ile249AsnfsTer?
ENST00000566556.1:n.793dup
ENST00000567177.1:c.523dup ENSP00000457013.1:p.Ile175AsnfsTer?
ENST00000569931.5:c.685dup ENSP00000455161.1:p.Ile229AsnfsTer?
NM_001289155.1:c.745dup NP_001276084.1:p.Ile249AsnfsTer?
NM_001289156.1:c.595dup NP_001276085.1:p.Ile199AsnfsTer?
NM_001289157.1:c.562dup NP_001276086.1:p.Ile188AsnfsTer?
NM_002435.2:c.745dup NP_002426.1:p.Ile249AsnfsTer?
XM_011521592.1:c.733dup XP_011519894.1:p.Ile245AsnfsTer?
XM_011521593.1:c.685dup XP_011519895.1:p.Ile229AsnfsTer?
NM_001330372.1:c.685dup NP_001317301.1:p.Ile229AsnfsTer?
XM_017022208.1:c.685dup XP_016877697.1:p.Ile229AsnfsTer?
XM_017022209.2:c.595dup XP_016877698.1:p.Ile199AsnfsTer?
NM_002435.3:c.745dup MANE Select NP_002426.1:p.Ile249AsnfsTer?
NM_001289155.2:c.745dup NP_001276084.1:p.Ile249AsnfsTer?
NM_001289156.2:c.595dup NP_001276085.1:p.Ile199AsnfsTer?
NM_001289157.2:c.562dup NP_001276086.1:p.Ile188AsnfsTer?
NM_001330372.2:c.685dup NP_001317301.1:p.Ile229AsnfsTer?