Canonical Allele Identifier: CA7676149

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77035870G>A , CM000677.2:g.77035870G>A	GRCh38
NC_000015.9:g.77328211G>A , CM000677.1:g.77328211G>A	GRCh37
NC_000015.8:g.75115266G>A	NCBI36
NG_007526.1:g.45747G>A , LRG_172:g.45747G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2220G>A
ENST00000697623.1:n.2473G>A
ENST00000558012.6:c.1054G>A MANE Select	ENSP00000452746.1:p.Glu352Lys
ENST00000379595.7:c.1045G>A	ENSP00000368914.3:p.Glu349Lys
ENST00000557995.1:n.718G>A
ENST00000558012.5:c.1054G>A	ENSP00000452746.1:p.Glu352Lys
ENST00000558870.1:c.203G>A
ENST00000559295.5:c.997G>A	ENSP00000452743.1:p.Glu333Lys
ENST00000559785.5:c.*29G>A	ENSP00000452986.1:n.*29G>A
ENST00000560064.1:n.177G>A
ENST00000560223.5:c.*1156G>A	ENSP00000454118.1:n.*1156G>A
NM_003978.3:c.1054G>A , LRG_172t1:c.1054G>A	NP_003969.2:p.Glu352Lys
XM_006720737.2:c.688G>A	XP_006720800.1:p.Glu230Lys
XM_011522163.1:c.1102G>A	XP_011520465.1:p.Glu368Lys
XM_011522164.1:c.1009G>A	XP_011520466.1:p.Glu337Lys
XM_011522165.1:c.907G>A	XP_011520467.1:p.Glu303Lys
XM_011522166.1:c.*59G>A	XP_011520468.1:n.*59G>A
XM_011522167.1:c.*51G>A	XP_011520469.1:n.*51G>A
XM_011522168.1:c.1111G>A	XP_011520470.1:p.Glu371Lys
XM_011522169.1:c.*59G>A	XP_011520471.1:n.*59G>A
XM_011522170.1:c.496G>A	XP_011520472.1:p.Glu166Lys
XM_011522171.1:c.436G>A	XP_011520473.1:p.Glu146Lys
XM_011522172.1:c.436G>A	XP_011520474.1:p.Glu146Lys
XM_011522173.1:c.436G>A	XP_011520475.1:p.Glu146Lys
XR_931936.1:n.1595G>A
XR_931937.1:n.1538G>A
XR_931938.1:n.1470G>A
XR_931939.1:n.1373G>A
XR_931940.1:n.1194G>A
NM_001321135.1:c.997G>A	NP_001308064.1:p.Glu333Lys
NM_001321136.1:c.1027G>A	NP_001308065.1:p.Glu343Lys
NM_001321137.1:c.1249G>A	NP_001308066.1:p.Glu417Lys
NM_003978.4:c.1054G>A	NP_003969.2:p.Glu352Lys
NR_135552.1:n.1275G>A
XM_006720737.3:c.688G>A	XP_006720800.1:p.Glu230Lys
XM_011522163.2:c.1102G>A	XP_011520465.1:p.Glu368Lys
XM_011522165.2:c.907G>A	XP_011520467.1:p.Glu303Lys
XM_011522166.2:c.*59G>A	XP_011520468.1:n.*59G>A
XM_011522167.2:c.*51G>A	XP_011520469.1:n.*51G>A
XM_011522168.3:c.1111G>A	XP_011520470.1:p.Glu371Lys
XM_011522169.2:c.*59G>A	XP_011520471.1:n.*59G>A
XR_931936.2:n.1593G>A
XR_931937.2:n.1536G>A
XR_931938.2:n.1468G>A
XR_931939.2:n.1371G>A
NM_001321135.2:c.997G>A	NP_001308064.1:p.Glu333Lys
NM_001321136.2:c.1027G>A	NP_001308065.1:p.Glu343Lys
NM_003978.5:c.1054G>A MANE Select	NP_003969.2:p.Glu352Lys
NR_135552.2:n.1234G>A