Canonical Allele Identifier: CA491335924
Gene: PSTPIP1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.77324656G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032315G>T , CM000677.2:g.77032315G>T GRCh38
NC_000015.9:g.77324656G>T , CM000677.1:g.77324656G>T GRCh37
NC_000015.8:g.75111711G>T NCBI36
NG_007526.1:g.42192G>T , LRG_172:g.42192G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.1458G>T
ENST00000697623.1:n.2178G>T
ENST00000558012.6:c.759G>T MANE Select ENSP00000452746.1:p.Arg253=
ENST00000379595.7:c.759G>T ENSP00000368914.3:p.Arg253=
ENST00000557995.1:n.423G>T
ENST00000558012.5:c.759G>T ENSP00000452746.1:p.Arg253=
ENST00000559295.5:c.759G>T ENSP00000452743.1:p.Arg253=
ENST00000559785.5:c.954G>T ENSP00000452986.1:p.Arg318=
ENST00000559856.1:c.678G>T ENSP00000453382.1:p.Arg226=
ENST00000560223.5:c.*861G>T ENSP00000454118.1:n.*861G>T
ENST00000560377.5:n.1000G>T
NM_003978.3:c.759G>T , LRG_172t1:c.759G>T NP_003969.2:p.Arg253=
XM_006720737.2:c.393G>T XP_006720800.1:p.Arg131=
XM_011522163.1:c.816G>T XP_011520465.1:p.Arg272=
XM_011522164.1:c.714G>T XP_011520466.1:p.Arg238=
XM_011522165.1:c.612G>T XP_011520467.1:p.Arg204=
XM_011522166.1:c.816G>T XP_011520468.1:p.Arg272=
XM_011522167.1:c.816G>T XP_011520469.1:p.Arg272=
XM_011522168.1:c.816G>T XP_011520470.1:p.Arg272=
XM_011522169.1:c.798+1037G>T XP_011520471.1:n.798+1037G>T
XM_011522170.1:c.371+2741G>T XP_011520472.1:n.371+2741G>T
XM_011522171.1:c.311+2741G>T XP_011520473.1:n.311+2741G>T
XM_011522172.1:c.311+2741G>T XP_011520474.1:n.311+2741G>T
XM_011522173.1:c.311+2741G>T XP_011520475.1:n.311+2741G>T
XR_931936.1:n.1266G>T
XR_931937.1:n.1209G>T
XR_931938.1:n.1266G>T
XR_931939.1:n.1248+1037G>T
XR_931940.1:n.1069+2741G>T
NM_001321135.1:c.759G>T NP_001308064.1:p.Arg253=
NM_001321136.1:c.732G>T NP_001308065.1:p.Arg244=
NM_001321137.1:c.954G>T NP_001308066.1:p.Arg318=
NM_003978.4:c.759G>T NP_003969.2:p.Arg253=
NR_135552.1:n.1150+1037G>T
XM_006720737.3:c.393G>T XP_006720800.1:p.Arg131=
XM_011522163.2:c.816G>T XP_011520465.1:p.Arg272=
XM_011522165.2:c.612G>T XP_011520467.1:p.Arg204=
XM_011522166.2:c.816G>T XP_011520468.1:p.Arg272=
XM_011522167.2:c.816G>T XP_011520469.1:p.Arg272=
XM_011522168.3:c.816G>T XP_011520470.1:p.Arg272=
XM_011522169.2:c.798+1037G>T XP_011520471.1:n.798+1037G>T
XR_931936.2:n.1264G>T
XR_931937.2:n.1207G>T
XR_931938.2:n.1264G>T
XR_931939.2:n.1246+1037G>T
NM_001321135.2:c.759G>T NP_001308064.1:p.Arg253=
NM_001321136.2:c.732G>T NP_001308065.1:p.Arg244=
NM_003978.5:c.759G>T MANE Select NP_003969.2:p.Arg253=
NR_135552.2:n.1109+1037G>T