Canonical Allele Identifier: CA393175778
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896164A>C , CM000677.2:g.74896164A>C GRCh38
NC_000015.9:g.75188505A>C , CM000677.1:g.75188505A>C GRCh37
NC_000015.8:g.72975558A>C NCBI36
NG_008921.1:g.11096A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.683A>C MANE Select ENSP00000318318.6:p.Asn228Thr
ENST00000323744.10:c.500A>C ENSP00000318192.6:p.Asn167Thr
ENST00000352410.8:c.683A>C ENSP00000318318.6:p.Asn228Thr
ENST00000535694.5:c.533A>C ENSP00000440447.1:p.Asn178Thr
ENST00000561470.5:c.*579A>C ENSP00000454267.1:n.*579A>C
ENST00000562606.5:c.623A>C ENSP00000457020.1:p.Asn208Thr
ENST00000562800.5:c.256-1375A>C ENSP00000457619.1:n.256-1375A>C
ENST00000563422.5:c.683A>C ENSP00000457885.1:p.Asn228Thr
ENST00000563786.5:c.623A>C ENSP00000455241.1:p.Asn208Thr
ENST00000564003.5:c.350A>C ENSP00000454312.1:p.Asn117Thr
ENST00000566377.5:c.683A>C ENSP00000455405.1:p.Asn228Thr
ENST00000566556.1:n.731A>C
ENST00000567177.1:c.461A>C ENSP00000457013.1:p.Asn154Thr
ENST00000569931.5:c.623A>C ENSP00000455161.1:p.Asn208Thr
NM_001289155.1:c.683A>C NP_001276084.1:p.Asn228Thr
NM_001289156.1:c.533A>C NP_001276085.1:p.Asn178Thr
NM_001289157.1:c.500A>C NP_001276086.1:p.Asn167Thr
NM_002435.2:c.683A>C NP_002426.1:p.Asn228Thr
XM_011521592.1:c.671A>C XP_011519894.1:p.Asn224Thr
XM_011521593.1:c.623A>C XP_011519895.1:p.Asn208Thr
NM_001330372.1:c.623A>C NP_001317301.1:p.Asn208Thr
XM_017022208.1:c.623A>C XP_016877697.1:p.Asn208Thr
XM_017022209.2:c.533A>C XP_016877698.1:p.Asn178Thr
NM_002435.3:c.683A>C MANE Select NP_002426.1:p.Asn228Thr
NM_001289155.2:c.683A>C NP_001276084.1:p.Asn228Thr
NM_001289156.2:c.533A>C NP_001276085.1:p.Asn178Thr
NM_001289157.2:c.500A>C NP_001276086.1:p.Asn167Thr
NM_001330372.2:c.623A>C NP_001317301.1:p.Asn208Thr