Canonical Allele Identifier: CA2596374136
Gene: PSTPIP1 HGNC NCBI

Linked Data

dbSNP Id: rs2152689763

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77033063dup , CM000677.2:g.77033063dup GRCh38
NC_000015.9:g.77325404dup , CM000677.1:g.77325404dup GRCh37
NC_000015.8:g.75112459dup NCBI36
NG_007526.1:g.42940dup , LRG_172:g.42940dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.2095+111dup
ENST00000697623.1:n.2348+111dup
ENST00000558012.6:c.929+111dup MANE Select ENSP00000452746.1:n.929+111dup
ENST00000379595.7:c.929+111dup ENSP00000368914.3:n.929+111dup
ENST00000557995.1:n.593+111dup
ENST00000558012.5:c.929+111dup ENSP00000452746.1:n.929+111dup
ENST00000558870.1:c.78+669dup
ENST00000559295.5:c.872+635dup ENSP00000452743.1:n.872+635dup
ENST00000559785.5:c.1158+111dup ENSP00000452986.1:n.1158+111dup
ENST00000560223.5:c.*1031+111dup ENSP00000454118.1:n.*1031+111dup
NM_003978.3:c.929+111dup , LRG_172t1:c.929+111dup NP_003969.2:n.929+111dup
XM_006720737.2:c.563+111dup XP_006720800.1:n.563+111dup
XM_011522163.1:c.986+111dup XP_011520465.1:n.986+111dup
XM_011522164.1:c.884+111dup XP_011520466.1:n.884+111dup
XM_011522165.1:c.782+111dup XP_011520467.1:n.782+111dup
XM_011522166.1:c.1020+111dup XP_011520468.1:n.1020+111dup
XM_011522167.1:c.895+669dup XP_011520469.1:n.895+669dup
XM_011522168.1:c.986+111dup XP_011520470.1:n.986+111dup
XM_011522169.1:c.798+1785dup XP_011520471.1:n.798+1785dup
XM_011522170.1:c.372-2445dup XP_011520472.1:n.372-2445dup
XM_011522171.1:c.312-2445dup XP_011520473.1:n.312-2445dup
XM_011522172.1:c.312-2445dup XP_011520474.1:n.312-2445dup
XM_011522173.1:c.312-2445dup XP_011520475.1:n.312-2445dup
XR_931936.1:n.1470+111dup
XR_931937.1:n.1413+111dup
XR_931938.1:n.1345+669dup
XR_931939.1:n.1248+1785dup
XR_931940.1:n.1070-2445dup
NM_001321135.1:c.872+635dup NP_001308064.1:n.872+635dup
NM_001321136.1:c.902+111dup NP_001308065.1:n.902+111dup
NM_001321137.1:c.1124+111dup NP_001308066.1:n.1124+111dup
NM_003978.4:c.929+111dup NP_003969.2:n.929+111dup
NR_135552.1:n.1150+1785dup
XM_006720737.3:c.563+111dup XP_006720800.1:n.563+111dup
XM_011522163.2:c.986+111dup XP_011520465.1:n.986+111dup
XM_011522165.2:c.782+111dup XP_011520467.1:n.782+111dup
XM_011522166.2:c.1020+111dup XP_011520468.1:n.1020+111dup
XM_011522167.2:c.895+669dup XP_011520469.1:n.895+669dup
XM_011522168.3:c.986+111dup XP_011520470.1:n.986+111dup
XM_011522169.2:c.798+1785dup XP_011520471.1:n.798+1785dup
XR_931936.2:n.1468+111dup
XR_931937.2:n.1411+111dup
XR_931938.2:n.1343+669dup
XR_931939.2:n.1246+1785dup
NM_001321135.2:c.872+635dup NP_001308064.1:n.872+635dup
NM_001321136.2:c.902+111dup NP_001308065.1:n.902+111dup
NM_003978.5:c.929+111dup MANE Select NP_003969.2:n.929+111dup
NR_135552.2:n.1109+1785dup