Canonical Allele Identifier: CA7676059

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032905G>A , CM000677.2:g.77032905G>A	GRCh38
NC_000015.9:g.77325246G>A , CM000677.1:g.77325246G>A	GRCh37
NC_000015.8:g.75112301G>A	NCBI36
NG_007526.1:g.42782G>A , LRG_172:g.42782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2048G>A
ENST00000697623.1:n.2301G>A
ENST00000558012.6:c.882G>A MANE Select	ENSP00000452746.1:p.Pro294=
ENST00000379595.7:c.882G>A	ENSP00000368914.3:p.Pro294=
ENST00000557995.1:n.546G>A
ENST00000558012.5:c.882G>A	ENSP00000452746.1:p.Pro294=
ENST00000558870.1:c.78+511G>A
ENST00000559295.5:c.872+477G>A	ENSP00000452743.1:n.872+477G>A
ENST00000559785.5:c.1111G>A	ENSP00000452986.1:p.Ala371Thr
ENST00000560223.5:c.*984G>A	ENSP00000454118.1:n.*984G>A
NM_003978.3:c.882G>A , LRG_172t1:c.882G>A	NP_003969.2:p.Pro294=
XM_006720737.2:c.516G>A	XP_006720800.1:p.Pro172=
XM_011522163.1:c.939G>A	XP_011520465.1:p.Pro313=
XM_011522164.1:c.837G>A	XP_011520466.1:p.Pro279=
XM_011522165.1:c.735G>A	XP_011520467.1:p.Pro245=
XM_011522166.1:c.973G>A	XP_011520468.1:p.Ala325Thr
XM_011522167.1:c.895+511G>A	XP_011520469.1:n.895+511G>A
XM_011522168.1:c.939G>A	XP_011520470.1:p.Pro313=
XM_011522169.1:c.798+1627G>A	XP_011520471.1:n.798+1627G>A
XM_011522170.1:c.372-2603G>A	XP_011520472.1:n.372-2603G>A
XM_011522171.1:c.312-2603G>A	XP_011520473.1:n.312-2603G>A
XM_011522172.1:c.312-2603G>A	XP_011520474.1:n.312-2603G>A
XM_011522173.1:c.312-2603G>A	XP_011520475.1:n.312-2603G>A
XR_931936.1:n.1423G>A
XR_931937.1:n.1366G>A
XR_931938.1:n.1345+511G>A
XR_931939.1:n.1248+1627G>A
XR_931940.1:n.1070-2603G>A
NM_001321135.1:c.872+477G>A	NP_001308064.1:n.872+477G>A
NM_001321136.1:c.855G>A	NP_001308065.1:p.Pro285=
NM_001321137.1:c.1077G>A	NP_001308066.1:p.Pro359=
NM_003978.4:c.882G>A	NP_003969.2:p.Pro294=
NR_135552.1:n.1150+1627G>A
XM_006720737.3:c.516G>A	XP_006720800.1:p.Pro172=
XM_011522163.2:c.939G>A	XP_011520465.1:p.Pro313=
XM_011522165.2:c.735G>A	XP_011520467.1:p.Pro245=
XM_011522166.2:c.973G>A	XP_011520468.1:p.Ala325Thr
XM_011522167.2:c.895+511G>A	XP_011520469.1:n.895+511G>A
XM_011522168.3:c.939G>A	XP_011520470.1:p.Pro313=
XM_011522169.2:c.798+1627G>A	XP_011520471.1:n.798+1627G>A
XR_931936.2:n.1421G>A
XR_931937.2:n.1364G>A
XR_931938.2:n.1343+511G>A
XR_931939.2:n.1246+1627G>A
NM_001321135.2:c.872+477G>A	NP_001308064.1:n.872+477G>A
NM_001321136.2:c.855G>A	NP_001308065.1:p.Pro285=
NM_003978.5:c.882G>A MANE Select	NP_003969.2:p.Pro294=
NR_135552.2:n.1109+1627G>A