Canonical Allele Identifier: CA393521988
Gene: PSTPIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77037078A>G , CM000677.2:g.77037078A>G GRCh38
NC_000015.9:g.77329419A>G , CM000677.1:g.77329419A>G GRCh37
NC_000015.8:g.75116474A>G NCBI36
NG_007526.1:g.46955A>G , LRG_172:g.46955A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000697622.1:n.2319A>G
ENST00000697623.1:n.2572A>G
ENST00000558012.6:c.1153A>G MANE Select ENSP00000452746.1:p.Ile385Val
ENST00000379595.7:c.1144A>G ENSP00000368914.3:p.Ile382Val
ENST00000557995.1:n.817A>G
ENST00000558012.5:c.1153A>G ENSP00000452746.1:p.Ile385Val
ENST00000558870.1:c.302A>G
ENST00000559295.5:c.1096A>G ENSP00000452743.1:p.Ile366Val
ENST00000559785.5:c.*128A>G ENSP00000452986.1:n.*128A>G
ENST00000560064.1:n.276A>G
ENST00000560223.5:c.*1255A>G ENSP00000454118.1:n.*1255A>G
NM_003978.3:c.1153A>G , LRG_172t1:c.1153A>G NP_003969.2:p.Ile385Val
XM_006720737.2:c.787A>G XP_006720800.1:p.Ile263Val
XM_011522163.1:c.1201A>G XP_011520465.1:p.Ile401Val
XM_011522164.1:c.1108A>G XP_011520466.1:p.Ile370Val
XM_011522165.1:c.1006A>G XP_011520467.1:p.Ile336Val
XM_011522168.1:c.1210A>G XP_011520470.1:p.Ile404Val
XM_011522170.1:c.595A>G XP_011520472.1:p.Ile199Val
XM_011522171.1:c.535A>G XP_011520473.1:p.Ile179Val
XM_011522172.1:c.535A>G XP_011520474.1:p.Ile179Val
XM_011522173.1:c.535A>G XP_011520475.1:p.Ile179Val
XR_931936.1:n.1694A>G
XR_931937.1:n.1637A>G
XR_931938.1:n.1569A>G
XR_931939.1:n.1472A>G
XR_931940.1:n.1293A>G
NM_001321135.1:c.1096A>G NP_001308064.1:p.Ile366Val
NM_001321136.1:c.1126A>G NP_001308065.1:p.Ile376Val
NM_001321137.1:c.1348A>G NP_001308066.1:p.Ile450Val
NM_003978.4:c.1153A>G NP_003969.2:p.Ile385Val
NR_135552.1:n.1374A>G
XM_006720737.3:c.787A>G XP_006720800.1:p.Ile263Val
XM_011522163.2:c.1201A>G XP_011520465.1:p.Ile401Val
XM_011522165.2:c.1006A>G XP_011520467.1:p.Ile336Val
XM_011522168.3:c.1210A>G XP_011520470.1:p.Ile404Val
XR_931936.2:n.1692A>G
XR_931937.2:n.1635A>G
XR_931938.2:n.1567A>G
XR_931939.2:n.1470A>G
NM_001321135.2:c.1096A>G NP_001308064.1:p.Ile366Val
NM_001321136.2:c.1126A>G NP_001308065.1:p.Ile376Val
NM_003978.5:c.1153A>G MANE Select NP_003969.2:p.Ile385Val
NR_135552.2:n.1333A>G