Canonical Allele Identifier: CA393175777
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74896163A>T , CM000677.2:g.74896163A>T GRCh38
NC_000015.9:g.75188504A>T , CM000677.1:g.75188504A>T GRCh37
NC_000015.8:g.72975557A>T NCBI36
NG_008921.1:g.11095A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.682A>T MANE Select ENSP00000318318.6:p.Asn228Tyr
ENST00000323744.10:c.499A>T ENSP00000318192.6:p.Asn167Tyr
ENST00000352410.8:c.682A>T ENSP00000318318.6:p.Asn228Tyr
ENST00000535694.5:c.532A>T ENSP00000440447.1:p.Asn178Tyr
ENST00000561470.5:c.*578A>T ENSP00000454267.1:n.*578A>T
ENST00000562606.5:c.622A>T ENSP00000457020.1:p.Asn208Tyr
ENST00000562800.5:c.256-1376A>T ENSP00000457619.1:n.256-1376A>T
ENST00000563422.5:c.682A>T ENSP00000457885.1:p.Asn228Tyr
ENST00000563786.5:c.622A>T ENSP00000455241.1:p.Asn208Tyr
ENST00000564003.5:c.349A>T ENSP00000454312.1:p.Asn117Tyr
ENST00000566377.5:c.682A>T ENSP00000455405.1:p.Asn228Tyr
ENST00000566556.1:n.730A>T
ENST00000567177.1:c.460A>T ENSP00000457013.1:p.Asn154Tyr
ENST00000569931.5:c.622A>T ENSP00000455161.1:p.Asn208Tyr
NM_001289155.1:c.682A>T NP_001276084.1:p.Asn228Tyr
NM_001289156.1:c.532A>T NP_001276085.1:p.Asn178Tyr
NM_001289157.1:c.499A>T NP_001276086.1:p.Asn167Tyr
NM_002435.2:c.682A>T NP_002426.1:p.Asn228Tyr
XM_011521592.1:c.670A>T XP_011519894.1:p.Asn224Tyr
XM_011521593.1:c.622A>T XP_011519895.1:p.Asn208Tyr
NM_001330372.1:c.622A>T NP_001317301.1:p.Asn208Tyr
XM_017022208.1:c.622A>T XP_016877697.1:p.Asn208Tyr
XM_017022209.2:c.532A>T XP_016877698.1:p.Asn178Tyr
NM_002435.3:c.682A>T MANE Select NP_002426.1:p.Asn228Tyr
NM_001289155.2:c.682A>T NP_001276084.1:p.Asn228Tyr
NM_001289156.2:c.532A>T NP_001276085.1:p.Asn178Tyr
NM_001289157.2:c.499A>T NP_001276086.1:p.Asn167Tyr
NM_001330372.2:c.622A>T NP_001317301.1:p.Asn208Tyr