Canonical Allele Identifier: CA393174497
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74893215G>T , CM000677.2:g.74893215G>T GRCh38
NC_000015.9:g.75185556G>T , CM000677.1:g.75185556G>T GRCh37
NC_000015.8:g.72972609G>T NCBI36
NG_008921.1:g.8147G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.565G>T MANE Select ENSP00000318318.6:p.Ala189Ser
ENST00000323744.10:c.487+413G>T ENSP00000318192.6:n.487+413G>T
ENST00000352410.8:c.565G>T ENSP00000318318.6:p.Ala189Ser
ENST00000535694.5:c.415G>T ENSP00000440447.1:p.Ala139Ser
ENST00000561470.5:c.*461G>T ENSP00000454267.1:n.*461G>T
ENST00000562606.5:c.505G>T ENSP00000457020.1:p.Ala169Ser
ENST00000562800.5:c.255+1726G>T ENSP00000457619.1:n.255+1726G>T
ENST00000563422.5:c.565G>T ENSP00000457885.1:p.Ala189Ser
ENST00000563786.5:c.505G>T ENSP00000455241.1:p.Ala169Ser
ENST00000564003.5:c.337+413G>T ENSP00000454312.1:n.337+413G>T
ENST00000564633.5:c.505G>T ENSP00000455383.1:p.Ala169Ser
ENST00000565576.5:c.565G>T ENSP00000454619.1:p.Ala189Ser
ENST00000566377.5:c.565G>T ENSP00000455405.1:p.Ala189Ser
ENST00000567132.5:c.523G>T ENSP00000455972.1:p.Ala175Ser
ENST00000567177.1:c.448+413G>T ENSP00000457013.1:n.448+413G>T
ENST00000568828.5:c.529G>T ENSP00000455065.1:p.Ala177Ser
ENST00000568907.5:c.475G>T ENSP00000457494.1:p.Ala159Ser
ENST00000569931.5:c.505G>T ENSP00000455161.1:p.Ala169Ser
NM_001289155.1:c.565G>T NP_001276084.1:p.Ala189Ser
NM_001289156.1:c.415G>T NP_001276085.1:p.Ala139Ser
NM_001289157.1:c.487+413G>T NP_001276086.1:n.487+413G>T
NM_002435.2:c.565G>T NP_002426.1:p.Ala189Ser
XM_011521592.1:c.553G>T XP_011519894.1:p.Ala185Ser
XM_011521593.1:c.505G>T XP_011519895.1:p.Ala169Ser
NM_001330372.1:c.505G>T NP_001317301.1:p.Ala169Ser
XM_017022208.1:c.505G>T XP_016877697.1:p.Ala169Ser
XM_017022209.2:c.415G>T XP_016877698.1:p.Ala139Ser
NM_002435.3:c.565G>T MANE Select NP_002426.1:p.Ala189Ser
NM_001289155.2:c.565G>T NP_001276084.1:p.Ala189Ser
NM_001289156.2:c.415G>T NP_001276085.1:p.Ala139Ser
NM_001289157.2:c.487+413G>T NP_001276086.1:n.487+413G>T
NM_001330372.2:c.505G>T NP_001317301.1:p.Ala169Ser