Canonical Allele Identifier: CA393176198
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896355T>C , CM000677.2:g.74896355T>C GRCh38
NC_000015.9:g.75188696T>C , CM000677.1:g.75188696T>C GRCh37
NC_000015.8:g.72975749T>C NCBI36
NG_008921.1:g.11287T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.844+30T>C MANE Select ENSP00000318318.6:n.844+30T>C
ENST00000323744.10:c.661+30T>C ENSP00000318192.6:n.661+30T>C
ENST00000352410.8:c.844+30T>C ENSP00000318318.6:n.844+30T>C
ENST00000535694.5:c.694+30T>C ENSP00000440447.1:n.694+30T>C
ENST00000562606.5:c.814T>C ENSP00000457020.1:p.Cys272Arg
ENST00000562800.5:c.256-1184T>C ENSP00000457619.1:n.256-1184T>C
ENST00000563422.5:c.874T>C ENSP00000457885.1:p.Cys292Arg
ENST00000563786.5:c.784+30T>C ENSP00000455241.1:n.784+30T>C
ENST00000564003.5:c.541T>C ENSP00000454312.1:p.Cys181Arg
ENST00000566377.5:c.844+30T>C ENSP00000455405.1:n.844+30T>C
ENST00000566556.1:n.922T>C
ENST00000567177.1:c.622+30T>C ENSP00000457013.1:n.622+30T>C
ENST00000569931.5:c.784+30T>C ENSP00000455161.1:n.784+30T>C
NM_001289155.1:c.844+30T>C NP_001276084.1:n.844+30T>C
NM_001289156.1:c.694+30T>C NP_001276085.1:n.694+30T>C
NM_001289157.1:c.661+30T>C NP_001276086.1:n.661+30T>C
NM_002435.2:c.844+30T>C NP_002426.1:n.844+30T>C
XM_011521592.1:c.832+30T>C XP_011519894.1:n.832+30T>C
XM_011521593.1:c.784+30T>C XP_011519895.1:n.784+30T>C
NM_001330372.1:c.784+30T>C NP_001317301.1:n.784+30T>C
XM_017022208.1:c.784+30T>C XP_016877697.1:n.784+30T>C
XM_017022209.2:c.694+30T>C XP_016877698.1:n.694+30T>C
NM_002435.3:c.844+30T>C MANE Select NP_002426.1:n.844+30T>C
NM_001289155.2:c.844+30T>C NP_001276084.1:n.844+30T>C
NM_001289156.2:c.694+30T>C NP_001276085.1:n.694+30T>C
NM_001289157.2:c.661+30T>C NP_001276086.1:n.661+30T>C
NM_001330372.2:c.784+30T>C NP_001317301.1:n.784+30T>C