Canonical Allele Identifier: CA393176070
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896298A>C , CM000677.2:g.74896298A>C GRCh38
NC_000015.9:g.75188639A>C , CM000677.1:g.75188639A>C GRCh37
NC_000015.8:g.72975692A>C NCBI36
NG_008921.1:g.11230A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.817A>C MANE Select ENSP00000318318.6:p.Asn273His
ENST00000323744.10:c.634A>C ENSP00000318192.6:p.Asn212His
ENST00000352410.8:c.817A>C ENSP00000318318.6:p.Asn273His
ENST00000535694.5:c.667A>C ENSP00000440447.1:p.Asn223His
ENST00000562606.5:c.757A>C ENSP00000457020.1:p.Asn253His
ENST00000562800.5:c.256-1241A>C ENSP00000457619.1:n.256-1241A>C
ENST00000563422.5:c.817A>C ENSP00000457885.1:p.Asn273His
ENST00000563786.5:c.757A>C ENSP00000455241.1:p.Asn253His
ENST00000564003.5:c.484A>C ENSP00000454312.1:p.Asn162His
ENST00000566377.5:c.817A>C ENSP00000455405.1:p.Asn273His
ENST00000566556.1:n.865A>C
ENST00000567177.1:c.595A>C ENSP00000457013.1:p.Asn199His
ENST00000569931.5:c.757A>C ENSP00000455161.1:p.Asn253His
NM_001289155.1:c.817A>C NP_001276084.1:p.Asn273His
NM_001289156.1:c.667A>C NP_001276085.1:p.Asn223His
NM_001289157.1:c.634A>C NP_001276086.1:p.Asn212His
NM_002435.2:c.817A>C NP_002426.1:p.Asn273His
XM_011521592.1:c.805A>C XP_011519894.1:p.Asn269His
XM_011521593.1:c.757A>C XP_011519895.1:p.Asn253His
NM_001330372.1:c.757A>C NP_001317301.1:p.Asn253His
XM_017022208.1:c.757A>C XP_016877697.1:p.Asn253His
XM_017022209.2:c.667A>C XP_016877698.1:p.Asn223His
NM_002435.3:c.817A>C MANE Select NP_002426.1:p.Asn273His
NM_001289155.2:c.817A>C NP_001276084.1:p.Asn273His
NM_001289156.2:c.667A>C NP_001276085.1:p.Asn223His
NM_001289157.2:c.634A>C NP_001276086.1:p.Asn212His
NM_001330372.2:c.757A>C NP_001317301.1:p.Asn253His