Canonical Allele Identifier: CA393177388
Gene: MPI HGNC NCBI

Linked Data

dbSNP Id: rs534508637

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74897068A>C , CM000677.2:g.74897068A>C GRCh38
NC_000015.9:g.75189409A>C , CM000677.1:g.75189409A>C GRCh37
NC_000015.8:g.72976462A>C NCBI36
NG_008921.1:g.12000A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000352410.9:c.902A>C MANE Select ENSP00000318318.6:p.Lys301Thr
ENST00000323744.10:c.719A>C ENSP00000318192.6:p.Lys240Thr
ENST00000352410.8:c.902A>C ENSP00000318318.6:p.Lys301Thr
ENST00000535694.5:c.752A>C ENSP00000440447.1:p.Lys251Thr
ENST00000562800.5:c.256-471A>C ENSP00000457619.1:n.256-471A>C
ENST00000563786.5:c.842A>C ENSP00000455241.1:p.Lys281Thr
ENST00000566377.5:c.845-444A>C ENSP00000455405.1:n.845-444A>C
ENST00000566556.1:n.1635A>C
ENST00000567177.1:c.623-444A>C ENSP00000457013.1:n.623-444A>C
ENST00000569931.5:c.842A>C ENSP00000455161.1:p.Lys281Thr
NM_001289155.1:c.845-444A>C NP_001276084.1:n.845-444A>C
NM_001289156.1:c.752A>C NP_001276085.1:p.Lys251Thr
NM_001289157.1:c.719A>C NP_001276086.1:p.Lys240Thr
NM_002435.2:c.902A>C NP_002426.1:p.Lys301Thr
XM_011521592.1:c.890A>C XP_011519894.1:p.Lys297Thr
XM_011521593.1:c.842A>C XP_011519895.1:p.Lys281Thr
NM_001330372.1:c.842A>C NP_001317301.1:p.Lys281Thr
XM_017022208.1:c.785-444A>C XP_016877697.1:n.785-444A>C
XM_017022209.2:c.695-444A>C XP_016877698.1:n.695-444A>C
NM_002435.3:c.902A>C MANE Select NP_002426.1:p.Lys301Thr
NM_001289155.2:c.845-444A>C NP_001276084.1:n.845-444A>C
NM_001289156.2:c.752A>C NP_001276085.1:p.Lys251Thr
NM_001289157.2:c.719A>C NP_001276086.1:p.Lys240Thr
NM_001330372.2:c.842A>C NP_001317301.1:p.Lys281Thr