Canonical Allele Identifier: CA7676206
Gene: PSTPIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 317188
dbSNP Id: rs202205180

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77037070C>T , CM000677.2:g.77037070C>T GRCh38
NC_000015.9:g.77329411C>T , CM000677.1:g.77329411C>T GRCh37
NC_000015.8:g.75116466C>T NCBI36
NG_007526.1:g.46947C>T , LRG_172:g.46947C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000697622.1:n.2311C>T
ENST00000697623.1:n.2564C>T
ENST00000558012.6:c.1145C>T MANE Select ENSP00000452746.1:p.Ala382Val
ENST00000379595.7:c.1136C>T ENSP00000368914.3:p.Ala379Val
ENST00000557995.1:n.809C>T
ENST00000558012.5:c.1145C>T ENSP00000452746.1:p.Ala382Val
ENST00000558870.1:c.294C>T
ENST00000559295.5:c.1088C>T ENSP00000452743.1:p.Ala363Val
ENST00000559785.5:c.*120C>T ENSP00000452986.1:n.*120C>T
ENST00000560064.1:n.268C>T
ENST00000560223.5:c.*1247C>T ENSP00000454118.1:n.*1247C>T
NM_003978.3:c.1145C>T , LRG_172t1:c.1145C>T NP_003969.2:p.Ala382Val
XM_006720737.2:c.779C>T XP_006720800.1:p.Ala260Val
XM_011522163.1:c.1193C>T XP_011520465.1:p.Ala398Val
XM_011522164.1:c.1100C>T XP_011520466.1:p.Ala367Val
XM_011522165.1:c.998C>T XP_011520467.1:p.Ala333Val
XM_011522168.1:c.1202C>T XP_011520470.1:p.Ala401Val
XM_011522170.1:c.587C>T XP_011520472.1:p.Ala196Val
XM_011522171.1:c.527C>T XP_011520473.1:p.Ala176Val
XM_011522172.1:c.527C>T XP_011520474.1:p.Ala176Val
XM_011522173.1:c.527C>T XP_011520475.1:p.Ala176Val
XR_931936.1:n.1686C>T
XR_931937.1:n.1629C>T
XR_931938.1:n.1561C>T
XR_931939.1:n.1464C>T
XR_931940.1:n.1285C>T
NM_001321135.1:c.1088C>T NP_001308064.1:p.Ala363Val
NM_001321136.1:c.1118C>T NP_001308065.1:p.Ala373Val
NM_001321137.1:c.1340C>T NP_001308066.1:p.Ala447Val
NM_003978.4:c.1145C>T NP_003969.2:p.Ala382Val
NR_135552.1:n.1366C>T
XM_006720737.3:c.779C>T XP_006720800.1:p.Ala260Val
XM_011522163.2:c.1193C>T XP_011520465.1:p.Ala398Val
XM_011522165.2:c.998C>T XP_011520467.1:p.Ala333Val
XM_011522168.3:c.1202C>T XP_011520470.1:p.Ala401Val
XR_931936.2:n.1684C>T
XR_931937.2:n.1627C>T
XR_931938.2:n.1559C>T
XR_931939.2:n.1462C>T
NM_001321135.2:c.1088C>T NP_001308064.1:p.Ala363Val
NM_001321136.2:c.1118C>T NP_001308065.1:p.Ala373Val
NM_003978.5:c.1145C>T MANE Select NP_003969.2:p.Ala382Val
NR_135552.2:n.1325C>T