Canonical Allele Identifier: CA292944
Gene: PSTPIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 138828
dbSNP Id: rs189773500

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032931C>T , CM000677.2:g.77032931C>T GRCh38
NC_000015.9:g.77325272C>T , CM000677.1:g.77325272C>T GRCh37
NC_000015.8:g.75112327C>T NCBI36
NG_007526.1:g.42808C>T , LRG_172:g.42808C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000558012.6:c.908C>T MANE Select ENSP00000452746.1:p.Pro303Leu
ENST00000379595.7:c.908C>T ENSP00000368914.3:p.Pro303Leu
ENST00000557995.1:n.572C>T
ENST00000558012.5:c.908C>T ENSP00000452746.1:p.Pro303Leu
ENST00000558870.1:n.78+537C>T
ENST00000559295.5:n.872+503C>T ENSP00000452743.1:p.=
ENST00000559785.5:c.1137C>T ENSP00000452986.1:p.Ala379=
ENST00000560223.5:c.*1010C>T ENSP00000454118.1:p.=
NM_003978.3:c.908C>T , LRG_172t1:c.908C>T NP_003969.2:p.Pro303Leu
XM_006720737.2:c.542C>T XP_006720800.1:p.Pro181Leu
XM_011522163.1:c.965C>T XP_011520465.1:p.Pro322Leu
XM_011522164.1:c.863C>T XP_011520466.1:p.Pro288Leu
XM_011522165.1:c.761C>T XP_011520467.1:p.Pro254Leu
XM_011522166.1:c.999C>T XP_011520468.1:p.Ala333=
XM_011522167.1:c.895+537C>T XP_011520469.1:p.=
XM_011522168.1:c.965C>T XP_011520470.1:p.Pro322Leu
XM_011522169.1:c.798+1653C>T XP_011520471.1:p.=
XM_011522170.1:c.372-2577C>T XP_011520472.1:p.=
XM_011522171.1:c.312-2577C>T XP_011520473.1:p.=
XM_011522172.1:c.312-2577C>T XP_011520474.1:p.=
XM_011522173.1:c.312-2577C>T XP_011520475.1:p.=
XR_931936.1:n.1449C>T
XR_931937.1:n.1392C>T
XR_931938.1:n.1345+537C>T
XR_931939.1:n.1248+1653C>T
XR_931940.1:n.1070-2577C>T
NM_001321135.1:c.872+503C>T NP_001308064.1:p.=
NM_001321136.1:c.881C>T NP_001308065.1:p.Pro294Leu
NM_001321137.1:c.1103C>T NP_001308066.1:p.Pro368Leu
NM_003978.4:c.908C>T NP_003969.2:p.Pro303Leu
NR_135552.1:n.1150+1653C>T
XM_006720737.3:c.542C>T XP_006720800.1:p.Pro181Leu
XM_011522163.2:c.965C>T XP_011520465.1:p.Pro322Leu
XM_011522165.2:c.761C>T XP_011520467.1:p.Pro254Leu
XM_011522166.2:c.999C>T XP_011520468.1:p.Ala333=
XM_011522167.2:c.895+537C>T XP_011520469.1:p.=
XM_011522168.3:c.965C>T XP_011520470.1:p.Pro322Leu
XM_011522169.2:c.798+1653C>T XP_011520471.1:p.=
XR_931936.2:n.1447C>T
XR_931937.2:n.1390C>T
XR_931938.2:n.1343+537C>T
XR_931939.2:n.1246+1653C>T
NM_001321135.2:c.872+503C>T NP_001308064.1:p.=
NM_001321136.2:c.881C>T NP_001308065.1:p.Pro294Leu
NM_003978.5:c.908C>T MANE Select NP_003969.2:p.Pro303Leu
NR_135552.2:n.1109+1653C>T