Canonical Allele Identifier: CA2188861726

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs2076460777
• gnomAD v4: 15-77033024-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77033024T>C , CM000677.2:g.77033024T>C	GRCh38
NC_000015.9:g.77325365T>C , CM000677.1:g.77325365T>C	GRCh37
NC_000015.8:g.75112420T>C	NCBI36
NG_007526.1:g.42901T>C , LRG_172:g.42901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095+72T>C
ENST00000697623.1:n.2348+72T>C
ENST00000558012.6:c.929+72T>C MANE Select	ENSP00000452746.1:n.929+72T>C
ENST00000379595.7:c.929+72T>C	ENSP00000368914.3:n.929+72T>C
ENST00000557995.1:n.593+72T>C
ENST00000558012.5:c.929+72T>C	ENSP00000452746.1:n.929+72T>C
ENST00000558870.1:c.78+630T>C
ENST00000559295.5:c.872+596T>C	ENSP00000452743.1:n.872+596T>C
ENST00000559785.5:c.1158+72T>C	ENSP00000452986.1:n.1158+72T>C
ENST00000560223.5:c.*1031+72T>C	ENSP00000454118.1:n.*1031+72T>C
NM_003978.3:c.929+72T>C , LRG_172t1:c.929+72T>C	NP_003969.2:n.929+72T>C
XM_006720737.2:c.563+72T>C	XP_006720800.1:n.563+72T>C
XM_011522163.1:c.986+72T>C	XP_011520465.1:n.986+72T>C
XM_011522164.1:c.884+72T>C	XP_011520466.1:n.884+72T>C
XM_011522165.1:c.782+72T>C	XP_011520467.1:n.782+72T>C
XM_011522166.1:c.1020+72T>C	XP_011520468.1:n.1020+72T>C
XM_011522167.1:c.895+630T>C	XP_011520469.1:n.895+630T>C
XM_011522168.1:c.986+72T>C	XP_011520470.1:n.986+72T>C
XM_011522169.1:c.798+1746T>C	XP_011520471.1:n.798+1746T>C
XM_011522170.1:c.372-2484T>C	XP_011520472.1:n.372-2484T>C
XM_011522171.1:c.312-2484T>C	XP_011520473.1:n.312-2484T>C
XM_011522172.1:c.312-2484T>C	XP_011520474.1:n.312-2484T>C
XM_011522173.1:c.312-2484T>C	XP_011520475.1:n.312-2484T>C
XR_931936.1:n.1470+72T>C
XR_931937.1:n.1413+72T>C
XR_931938.1:n.1345+630T>C
XR_931939.1:n.1248+1746T>C
XR_931940.1:n.1070-2484T>C
NM_001321135.1:c.872+596T>C	NP_001308064.1:n.872+596T>C
NM_001321136.1:c.902+72T>C	NP_001308065.1:n.902+72T>C
NM_001321137.1:c.1124+72T>C	NP_001308066.1:n.1124+72T>C
NM_003978.4:c.929+72T>C	NP_003969.2:n.929+72T>C
NR_135552.1:n.1150+1746T>C
XM_006720737.3:c.563+72T>C	XP_006720800.1:n.563+72T>C
XM_011522163.2:c.986+72T>C	XP_011520465.1:n.986+72T>C
XM_011522165.2:c.782+72T>C	XP_011520467.1:n.782+72T>C
XM_011522166.2:c.1020+72T>C	XP_011520468.1:n.1020+72T>C
XM_011522167.2:c.895+630T>C	XP_011520469.1:n.895+630T>C
XM_011522168.3:c.986+72T>C	XP_011520470.1:n.986+72T>C
XM_011522169.2:c.798+1746T>C	XP_011520471.1:n.798+1746T>C
XR_931936.2:n.1468+72T>C
XR_931937.2:n.1411+72T>C
XR_931938.2:n.1343+630T>C
XR_931939.2:n.1246+1746T>C
NM_001321135.2:c.872+596T>C	NP_001308064.1:n.872+596T>C
NM_001321136.2:c.902+72T>C	NP_001308065.1:n.902+72T>C
NM_003978.5:c.929+72T>C MANE Select	NP_003969.2:n.929+72T>C
NR_135552.2:n.1109+1746T>C