Canonical Allele Identifier: CA393521159
Gene: PSTPIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032357T>A , CM000677.2:g.77032357T>A GRCh38
NC_000015.9:g.77324698T>A , CM000677.1:g.77324698T>A GRCh37
NC_000015.8:g.75111753T>A NCBI36
NG_007526.1:g.42234T>A , LRG_172:g.42234T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697622.1:n.1500T>A
ENST00000697623.1:n.2220T>A
ENST00000558012.6:c.801T>A MANE Select ENSP00000452746.1:p.Ser267Arg
ENST00000379595.7:c.801T>A ENSP00000368914.3:p.Ser267Arg
ENST00000557995.1:n.465T>A
ENST00000558012.5:c.801T>A ENSP00000452746.1:p.Ser267Arg
ENST00000558870.1:c.41T>A
ENST00000559295.5:c.801T>A ENSP00000452743.1:p.Ser267Arg
ENST00000559785.5:c.996T>A ENSP00000452986.1:p.Ser332Arg
ENST00000559856.1:c.720T>A ENSP00000453382.1:p.Ser240Arg
ENST00000560223.5:c.*903T>A ENSP00000454118.1:n.*903T>A
ENST00000560377.5:n.1042T>A
NM_003978.3:c.801T>A , LRG_172t1:c.801T>A NP_003969.2:p.Ser267Arg
XM_006720737.2:c.435T>A XP_006720800.1:p.Ser145Arg
XM_011522163.1:c.858T>A XP_011520465.1:p.Ser286Arg
XM_011522164.1:c.756T>A XP_011520466.1:p.Ser252Arg
XM_011522165.1:c.654T>A XP_011520467.1:p.Ser218Arg
XM_011522166.1:c.858T>A XP_011520468.1:p.Ser286Arg
XM_011522167.1:c.858T>A XP_011520469.1:p.Ser286Arg
XM_011522168.1:c.858T>A XP_011520470.1:p.Ser286Arg
XM_011522169.1:c.798+1079T>A XP_011520471.1:n.798+1079T>A
XM_011522170.1:c.371+2783T>A XP_011520472.1:n.371+2783T>A
XM_011522171.1:c.311+2783T>A XP_011520473.1:n.311+2783T>A
XM_011522172.1:c.311+2783T>A XP_011520474.1:n.311+2783T>A
XM_011522173.1:c.311+2783T>A XP_011520475.1:n.311+2783T>A
XR_931936.1:n.1308T>A
XR_931937.1:n.1251T>A
XR_931938.1:n.1308T>A
XR_931939.1:n.1248+1079T>A
XR_931940.1:n.1069+2783T>A
NM_001321135.1:c.801T>A NP_001308064.1:p.Ser267Arg
NM_001321136.1:c.774T>A NP_001308065.1:p.Ser258Arg
NM_001321137.1:c.996T>A NP_001308066.1:p.Ser332Arg
NM_003978.4:c.801T>A NP_003969.2:p.Ser267Arg
NR_135552.1:n.1150+1079T>A
XM_006720737.3:c.435T>A XP_006720800.1:p.Ser145Arg
XM_011522163.2:c.858T>A XP_011520465.1:p.Ser286Arg
XM_011522165.2:c.654T>A XP_011520467.1:p.Ser218Arg
XM_011522166.2:c.858T>A XP_011520468.1:p.Ser286Arg
XM_011522167.2:c.858T>A XP_011520469.1:p.Ser286Arg
XM_011522168.3:c.858T>A XP_011520470.1:p.Ser286Arg
XM_011522169.2:c.798+1079T>A XP_011520471.1:n.798+1079T>A
XR_931936.2:n.1306T>A
XR_931937.2:n.1249T>A
XR_931938.2:n.1306T>A
XR_931939.2:n.1246+1079T>A
NM_001321135.2:c.801T>A NP_001308064.1:p.Ser267Arg
NM_001321136.2:c.774T>A NP_001308065.1:p.Ser258Arg
NM_003978.5:c.801T>A MANE Select NP_003969.2:p.Ser267Arg
NR_135552.2:n.1109+1079T>A