Canonical Allele Identifier: CA7676204

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037069G>A , CM000677.2:g.77037069G>A	GRCh38
NC_000015.9:g.77329410G>A , CM000677.1:g.77329410G>A	GRCh37
NC_000015.8:g.75116465G>A	NCBI36
NG_007526.1:g.46946G>A , LRG_172:g.46946G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2310G>A
ENST00000697623.1:n.2563G>A
ENST00000558012.6:c.1144G>A MANE Select	ENSP00000452746.1:p.Ala382Thr
ENST00000379595.7:c.1135G>A	ENSP00000368914.3:p.Ala379Thr
ENST00000557995.1:n.808G>A
ENST00000558012.5:c.1144G>A	ENSP00000452746.1:p.Ala382Thr
ENST00000558870.1:c.293G>A
ENST00000559295.5:c.1087G>A	ENSP00000452743.1:p.Ala363Thr
ENST00000559785.5:c.*119G>A	ENSP00000452986.1:n.*119G>A
ENST00000560064.1:n.267G>A
ENST00000560223.5:c.*1246G>A	ENSP00000454118.1:n.*1246G>A
NM_003978.3:c.1144G>A , LRG_172t1:c.1144G>A	NP_003969.2:p.Ala382Thr
XM_006720737.2:c.778G>A	XP_006720800.1:p.Ala260Thr
XM_011522163.1:c.1192G>A	XP_011520465.1:p.Ala398Thr
XM_011522164.1:c.1099G>A	XP_011520466.1:p.Ala367Thr
XM_011522165.1:c.997G>A	XP_011520467.1:p.Ala333Thr
XM_011522168.1:c.1201G>A	XP_011520470.1:p.Ala401Thr
XM_011522170.1:c.586G>A	XP_011520472.1:p.Ala196Thr
XM_011522171.1:c.526G>A	XP_011520473.1:p.Ala176Thr
XM_011522172.1:c.526G>A	XP_011520474.1:p.Ala176Thr
XM_011522173.1:c.526G>A	XP_011520475.1:p.Ala176Thr
XR_931936.1:n.1685G>A
XR_931937.1:n.1628G>A
XR_931938.1:n.1560G>A
XR_931939.1:n.1463G>A
XR_931940.1:n.1284G>A
NM_001321135.1:c.1087G>A	NP_001308064.1:p.Ala363Thr
NM_001321136.1:c.1117G>A	NP_001308065.1:p.Ala373Thr
NM_001321137.1:c.1339G>A	NP_001308066.1:p.Ala447Thr
NM_003978.4:c.1144G>A	NP_003969.2:p.Ala382Thr
NR_135552.1:n.1365G>A
XM_006720737.3:c.778G>A	XP_006720800.1:p.Ala260Thr
XM_011522163.2:c.1192G>A	XP_011520465.1:p.Ala398Thr
XM_011522165.2:c.997G>A	XP_011520467.1:p.Ala333Thr
XM_011522168.3:c.1201G>A	XP_011520470.1:p.Ala401Thr
XR_931936.2:n.1683G>A
XR_931937.2:n.1626G>A
XR_931938.2:n.1558G>A
XR_931939.2:n.1461G>A
NM_001321135.2:c.1087G>A	NP_001308064.1:p.Ala363Thr
NM_001321136.2:c.1117G>A	NP_001308065.1:p.Ala373Thr
NM_003978.5:c.1144G>A MANE Select	NP_003969.2:p.Ala382Thr
NR_135552.2:n.1324G>A