Canonical Allele Identifier: CA393174860
Gene: MPI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74893315A>T , CM000677.2:g.74893315A>T GRCh38
NC_000015.9:g.75185656A>T , CM000677.1:g.75185656A>T GRCh37
NC_000015.8:g.72972709A>T NCBI36
NG_008921.1:g.8247A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000352410.9:c.665A>T MANE Select ENSP00000318318.6:p.Gln222Leu
ENST00000323744.10:c.487+513A>T ENSP00000318192.6:n.487+513A>T
ENST00000352410.8:c.665A>T ENSP00000318318.6:p.Gln222Leu
ENST00000535694.5:c.515A>T ENSP00000440447.1:p.Gln172Leu
ENST00000561470.5:c.*561A>T ENSP00000454267.1:n.*561A>T
ENST00000562606.5:c.605A>T ENSP00000457020.1:p.Gln202Leu
ENST00000562800.5:c.255+1826A>T ENSP00000457619.1:n.255+1826A>T
ENST00000563422.5:c.665A>T ENSP00000457885.1:p.Gln222Leu
ENST00000563786.5:c.605A>T ENSP00000455241.1:p.Gln202Leu
ENST00000564003.5:c.337+513A>T ENSP00000454312.1:n.337+513A>T
ENST00000565576.5:c.665A>T ENSP00000454619.1:p.Gln222Leu
ENST00000566377.5:c.665A>T ENSP00000455405.1:p.Gln222Leu
ENST00000567177.1:c.448+513A>T ENSP00000457013.1:n.448+513A>T
ENST00000569931.5:c.605A>T ENSP00000455161.1:p.Gln202Leu
NM_001289155.1:c.665A>T NP_001276084.1:p.Gln222Leu
NM_001289156.1:c.515A>T NP_001276085.1:p.Gln172Leu
NM_001289157.1:c.487+513A>T NP_001276086.1:n.487+513A>T
NM_002435.2:c.665A>T NP_002426.1:p.Gln222Leu
XM_011521592.1:c.653A>T XP_011519894.1:p.Gln218Leu
XM_011521593.1:c.605A>T XP_011519895.1:p.Gln202Leu
NM_001330372.1:c.605A>T NP_001317301.1:p.Gln202Leu
XM_017022208.1:c.605A>T XP_016877697.1:p.Gln202Leu
XM_017022209.2:c.515A>T XP_016877698.1:p.Gln172Leu
NM_002435.3:c.665A>T MANE Select NP_002426.1:p.Gln222Leu
NM_001289155.2:c.665A>T NP_001276084.1:p.Gln222Leu
NM_001289156.2:c.515A>T NP_001276085.1:p.Gln172Leu
NM_001289157.2:c.487+513A>T NP_001276086.1:n.487+513A>T
NM_001330372.2:c.605A>T NP_001317301.1:p.Gln202Leu