Canonical Allele Identifier: CA7675838

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77028629G>A , CM000677.2:g.77028629G>A	GRCh38
NC_000015.9:g.77320970G>A , CM000677.1:g.77320970G>A	GRCh37
NC_000015.8:g.75108025G>A	NCBI36
NG_007526.1:g.38506G>A , LRG_172:g.38506G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.173G>A
ENST00000697623.1:n.893G>A
ENST00000558012.6:c.493G>A MANE Select	ENSP00000452746.1:p.Gly165Ser
ENST00000379595.7:c.493G>A	ENSP00000368914.3:p.Gly165Ser
ENST00000557995.1:n.157G>A
ENST00000558012.5:c.493G>A	ENSP00000452746.1:p.Gly165Ser
ENST00000559161.5:c.493G>A	ENSP00000453372.1:p.Gly165Ser
ENST00000559295.5:c.493G>A	ENSP00000452743.1:p.Gly165Ser
ENST00000559750.5:c.*134G>A	ENSP00000453531.1:n.*134G>A
ENST00000559785.5:c.688G>A	ENSP00000452986.1:p.Gly230Ser
ENST00000559856.1:c.412G>A	ENSP00000453382.1:p.Gly138Ser
ENST00000560223.5:c.*595G>A	ENSP00000454118.1:n.*595G>A
ENST00000560377.5:n.734G>A
ENST00000560796.5:c.*191G>A	ENSP00000454127.1:n.*191G>A
ENST00000561315.5:n.266G>A
NM_003978.3:c.493G>A , LRG_172t1:c.493G>A	NP_003969.2:p.Gly165Ser
XM_006720737.2:c.127G>A	XP_006720800.1:p.Gly43Ser
XM_011522163.1:c.550G>A	XP_011520465.1:p.Gly184Ser
XM_011522164.1:c.448G>A	XP_011520466.1:p.Gly150Ser
XM_011522165.1:c.346G>A	XP_011520467.1:p.Gly116Ser
XM_011522166.1:c.550G>A	XP_011520468.1:p.Gly184Ser
XM_011522167.1:c.550G>A	XP_011520469.1:p.Gly184Ser
XM_011522168.1:c.550G>A	XP_011520470.1:p.Gly184Ser
XM_011522169.1:c.550G>A	XP_011520471.1:p.Gly184Ser
XM_011522170.1:c.198G>A	XP_011520472.1:p.Thr66=
XM_011522171.1:c.138G>A	XP_011520473.1:p.Thr46=
XM_011522172.1:c.138G>A	XP_011520474.1:p.Thr46=
XM_011522173.1:c.138G>A	XP_011520475.1:p.Thr46=
XR_931936.1:n.1000G>A
XR_931937.1:n.943G>A
XR_931938.1:n.1000G>A
XR_931939.1:n.1000G>A
XR_931940.1:n.1000G>A
NM_001321135.1:c.493G>A	NP_001308064.1:p.Gly165Ser
NM_001321136.1:c.466G>A	NP_001308065.1:p.Gly156Ser
NM_001321137.1:c.688G>A	NP_001308066.1:p.Gly230Ser
NM_003978.4:c.493G>A	NP_003969.2:p.Gly165Ser
NR_135552.1:n.982G>A
XM_006720737.3:c.127G>A	XP_006720800.1:p.Gly43Ser
XM_011522163.2:c.550G>A	XP_011520465.1:p.Gly184Ser
XM_011522165.2:c.346G>A	XP_011520467.1:p.Gly116Ser
XM_011522166.2:c.550G>A	XP_011520468.1:p.Gly184Ser
XM_011522167.2:c.550G>A	XP_011520469.1:p.Gly184Ser
XM_011522168.3:c.550G>A	XP_011520470.1:p.Gly184Ser
XM_011522169.2:c.550G>A	XP_011520471.1:p.Gly184Ser
XR_931936.2:n.998G>A
XR_931937.2:n.941G>A
XR_931938.2:n.998G>A
XR_931939.2:n.998G>A
NM_001321135.2:c.493G>A	NP_001308064.1:p.Gly165Ser
NM_001321136.2:c.466G>A	NP_001308065.1:p.Gly156Ser
NM_003978.5:c.493G>A MANE Select	NP_003969.2:p.Gly165Ser
NR_135552.2:n.941G>A