Canonical Allele Identifier: CA2188860758
Community Standard Title: NM_003978.5(PSTPIP1):c.688G= (p.Ala230=)
Gene: PSTPIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77031225G= , CM000677.2:g.77031225G= GRCh38
NC_000015.9:g.77323566G= , CM000677.1:g.77323566G= GRCh37
NC_000015.8:g.75110621G= NCBI36
NG_007526.1:g.41102G= , LRG_172:g.41102G=

Transcript Alleles

HGVS Amino-acid Change
NM_003978.5:c.688G= MANE Select NP_003969.2:p.Ala230=
ENST00000558012.6:c.688G= MANE Select ENSP00000452746.1:p.Ala230=
NM_001321135.1:c.688G= NP_001308064.1:p.Ala230=
NM_001321135.2:c.688G= NP_001308064.1:p.Ala230=
NM_001321136.1:c.661G= NP_001308065.1:p.Ala221=
NM_001321136.2:c.661G= NP_001308065.1:p.Ala221=
NM_001321137.1:c.883G= NP_001308066.1:p.Ala295=
NM_003978.3:c.688G= , LRG_172t1:c.688G= NP_003969.2:p.Ala230=
NM_003978.4:c.688G= NP_003969.2:p.Ala230=
NR_135552.1:n.1097G=
NR_135552.2:n.1056G=
ENST00000379595.7:c.688G= ENSP00000368914.3:p.Ala230=
ENST00000557995.1:n.352G=
ENST00000558012.5:c.688G= ENSP00000452746.1:p.Ala230=
ENST00000559295.5:c.688G= ENSP00000452743.1:p.Ala230=
ENST00000559750.5:c.*329G= ENSP00000453531.1:n.*329G=
ENST00000559785.5:c.883G= ENSP00000452986.1:p.Ala295=
ENST00000559856.1:c.607G= ENSP00000453382.1:p.Ala203=
ENST00000560223.5:c.*790G= ENSP00000454118.1:n.*790G=
ENST00000560377.5:n.929G=
ENST00000561315.5:n.461G=
ENST00000697622.1:n.368G=
ENST00000697623.1:n.1088G=
XM_006720737.2:c.322G= XP_006720800.1:p.Ala108=
XM_006720737.3:c.322G= XP_006720800.1:p.Ala108=
XM_011522163.1:c.745G= XP_011520465.1:p.Ala249=
XM_011522163.2:c.745G= XP_011520465.1:p.Ala249=
XM_011522164.1:c.643G= XP_011520466.1:p.Ala215=
XM_011522165.1:c.541G= XP_011520467.1:p.Ala181=
XM_011522165.2:c.541G= XP_011520467.1:p.Ala181=
XM_011522166.1:c.745G= XP_011520468.1:p.Ala249=
XM_011522166.2:c.745G= XP_011520468.1:p.Ala249=
XM_011522167.1:c.745G= XP_011520469.1:p.Ala249=
XM_011522167.2:c.745G= XP_011520469.1:p.Ala249=
XM_011522168.1:c.745G= XP_011520470.1:p.Ala249=
XM_011522168.3:c.745G= XP_011520470.1:p.Ala249=
XM_011522169.1:c.745G= XP_011520471.1:p.Ala249=
XM_011522169.2:c.745G= XP_011520471.1:p.Ala249=
XM_011522170.1:c.371+1651G= XP_011520472.1:n.371+1651G=
XM_011522171.1:c.311+1651G= XP_011520473.1:n.311+1651G=
XM_011522172.1:c.311+1651G= XP_011520474.1:n.311+1651G=
XM_011522173.1:c.311+1651G= XP_011520475.1:n.311+1651G=
XR_931936.1:n.1195G=
XR_931936.2:n.1193G=
XR_931937.1:n.1138G=
XR_931937.2:n.1136G=
XR_931938.1:n.1195G=
XR_931938.2:n.1193G=
XR_931939.1:n.1195G=
XR_931939.2:n.1193G=
XR_931940.1:n.1069+1651G=