Canonical Allele Identifier: CA3257413
Community Standard Title: NM_006451.5(PAIP1):c.740G>A (p.Arg247Gln)
Gene: PAIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.43539030C>T , CM000667.2:g.43539030C>T GRCh38
NC_000005.9:g.43539132C>T , CM000667.1:g.43539132C>T GRCh37
NC_000005.8:g.43574889C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_006451.5:c.740G>A MANE Select NP_006442.2:p.Arg247Gln
ENST00000306846.8:c.740G>A MANE Select ENSP00000302768.3:p.Arg247Gln
NM_006451.4:c.740G>A NP_006442.2:p.Arg247Gln
NM_182789.3:c.503G>A NP_877590.1:p.Arg168Gln
NM_182789.4:c.503G>A NP_877590.1:p.Arg168Gln
NM_183323.2:c.404G>A NP_899152.1:p.Arg135Gln
NM_183323.3:c.404G>A NP_899152.1:p.Arg135Gln
ENST00000306846.7:c.740G>A ENSP00000302768.3:p.Arg247Gln
ENST00000338972.8:c.404G>A ENSP00000339622.4:p.Arg135Gln
ENST00000436644.6:c.503G>A ENSP00000387729.2:p.Arg168Gln
ENST00000504639.5:c.735-2086G>A ENSP00000422084.1:n.735-2086G>A
ENST00000508537.1:c.404G>A ENSP00000425736.1:p.Arg135Gln
ENST00000511321.5:c.404G>A ENSP00000425675.1:p.Arg135Gln
ENST00000514514.5:c.503G>A ENSP00000425084.1:p.Arg168Gln
XM_005248230.2:c.404G>A XP_005248287.1:p.Arg135Gln
XM_005248230.4:c.404G>A XP_005248287.1:p.Arg135Gln
XM_011513938.1:c.740G>A XP_011512240.1:p.Arg247Gln
XM_017008956.2:c.404G>A XP_016864445.1:p.Arg135Gln