Canonical Allele Identifier: CA393521017

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77031276G>A , CM000677.2:g.77031276G>A	GRCh38
NC_000015.9:g.77323617G>A , CM000677.1:g.77323617G>A	GRCh37
NC_000015.8:g.75110672G>A	NCBI36
NG_007526.1:g.41153G>A , LRG_172:g.41153G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.419G>A
ENST00000697623.1:n.1139G>A
ENST00000558012.6:c.739G>A MANE Select	ENSP00000452746.1:p.Glu247Lys
ENST00000379595.7:c.739G>A	ENSP00000368914.3:p.Glu247Lys
ENST00000557995.1:n.403G>A
ENST00000558012.5:c.739G>A	ENSP00000452746.1:p.Glu247Lys
ENST00000559295.5:c.739G>A	ENSP00000452743.1:p.Glu247Lys
ENST00000559750.5:c.*380G>A	ENSP00000453531.1:n.*380G>A
ENST00000559785.5:c.934G>A	ENSP00000452986.1:p.Glu312Lys
ENST00000559856.1:c.658G>A	ENSP00000453382.1:p.Glu220Lys
ENST00000560223.5:c.*841G>A	ENSP00000454118.1:n.*841G>A
ENST00000560377.5:n.980G>A
ENST00000561315.5:n.512G>A
NM_003978.3:c.739G>A , LRG_172t1:c.739G>A	NP_003969.2:p.Glu247Lys
XM_006720737.2:c.373G>A	XP_006720800.1:p.Glu125Lys
XM_011522163.1:c.796G>A	XP_011520465.1:p.Glu266Lys
XM_011522164.1:c.694G>A	XP_011520466.1:p.Glu232Lys
XM_011522165.1:c.592G>A	XP_011520467.1:p.Glu198Lys
XM_011522166.1:c.796G>A	XP_011520468.1:p.Glu266Lys
XM_011522167.1:c.796G>A	XP_011520469.1:p.Glu266Lys
XM_011522168.1:c.796G>A	XP_011520470.1:p.Glu266Lys
XM_011522169.1:c.796G>A	XP_011520471.1:p.Glu266Lys
XM_011522170.1:c.371+1702G>A	XP_011520472.1:n.371+1702G>A
XM_011522171.1:c.311+1702G>A	XP_011520473.1:n.311+1702G>A
XM_011522172.1:c.311+1702G>A	XP_011520474.1:n.311+1702G>A
XM_011522173.1:c.311+1702G>A	XP_011520475.1:n.311+1702G>A
XR_931936.1:n.1246G>A
XR_931937.1:n.1189G>A
XR_931938.1:n.1246G>A
XR_931939.1:n.1246G>A
XR_931940.1:n.1069+1702G>A
NM_001321135.1:c.739G>A	NP_001308064.1:p.Glu247Lys
NM_001321136.1:c.712G>A	NP_001308065.1:p.Glu238Lys
NM_001321137.1:c.934G>A	NP_001308066.1:p.Glu312Lys
NM_003978.4:c.739G>A	NP_003969.2:p.Glu247Lys
NR_135552.1:n.1148G>A
XM_006720737.3:c.373G>A	XP_006720800.1:p.Glu125Lys
XM_011522163.2:c.796G>A	XP_011520465.1:p.Glu266Lys
XM_011522165.2:c.592G>A	XP_011520467.1:p.Glu198Lys
XM_011522166.2:c.796G>A	XP_011520468.1:p.Glu266Lys
XM_011522167.2:c.796G>A	XP_011520469.1:p.Glu266Lys
XM_011522168.3:c.796G>A	XP_011520470.1:p.Glu266Lys
XM_011522169.2:c.796G>A	XP_011520471.1:p.Glu266Lys
XR_931936.2:n.1244G>A
XR_931937.2:n.1187G>A
XR_931938.2:n.1244G>A
XR_931939.2:n.1244G>A
NM_001321135.2:c.739G>A	NP_001308064.1:p.Glu247Lys
NM_001321136.2:c.712G>A	NP_001308065.1:p.Glu238Lys
NM_003978.5:c.739G>A MANE Select	NP_003969.2:p.Glu247Lys
NR_135552.2:n.1107G>A