Canonical Allele Identifier: CA2188861321
Gene: PSTPIP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77032312G= , CM000677.2:g.77032312G= GRCh38
NC_000015.9:g.77324653G= , CM000677.1:g.77324653G= GRCh37
NC_000015.8:g.75111708G= NCBI36
NG_007526.1:g.42189G= , LRG_172:g.42189G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000697622.1:n.1455G=
ENST00000697623.1:n.2175G=
ENST00000558012.6:c.756G= MANE Select ENSP00000452746.1:p.Val252=
ENST00000379595.7:c.756G= ENSP00000368914.3:p.Val252=
ENST00000557995.1:n.420G=
ENST00000558012.5:c.756G= ENSP00000452746.1:p.Val252=
ENST00000559295.5:c.756G= ENSP00000452743.1:p.Val252=
ENST00000559785.5:c.951G= ENSP00000452986.1:p.Val317=
ENST00000559856.1:c.675G= ENSP00000453382.1:p.Val225=
ENST00000560223.5:c.*858G= ENSP00000454118.1:n.*858G=
ENST00000560377.5:n.997G=
NM_003978.3:c.756G= , LRG_172t1:c.756G= NP_003969.2:p.Val252=
XM_006720737.2:c.390G= XP_006720800.1:p.Val130=
XM_011522163.1:c.813G= XP_011520465.1:p.Val271=
XM_011522164.1:c.711G= XP_011520466.1:p.Val237=
XM_011522165.1:c.609G= XP_011520467.1:p.Val203=
XM_011522166.1:c.813G= XP_011520468.1:p.Val271=
XM_011522167.1:c.813G= XP_011520469.1:p.Val271=
XM_011522168.1:c.813G= XP_011520470.1:p.Val271=
XM_011522169.1:c.798+1034G= XP_011520471.1:n.798+1034G=
XM_011522170.1:c.371+2738G= XP_011520472.1:n.371+2738G=
XM_011522171.1:c.311+2738G= XP_011520473.1:n.311+2738G=
XM_011522172.1:c.311+2738G= XP_011520474.1:n.311+2738G=
XM_011522173.1:c.311+2738G= XP_011520475.1:n.311+2738G=
XR_931936.1:n.1263G=
XR_931937.1:n.1206G=
XR_931938.1:n.1263G=
XR_931939.1:n.1248+1034G=
XR_931940.1:n.1069+2738G=
NM_001321135.1:c.756G= NP_001308064.1:p.Val252=
NM_001321136.1:c.729G= NP_001308065.1:p.Val243=
NM_001321137.1:c.951G= NP_001308066.1:p.Val317=
NM_003978.4:c.756G= NP_003969.2:p.Val252=
NR_135552.1:n.1150+1034G=
XM_006720737.3:c.390G= XP_006720800.1:p.Val130=
XM_011522163.2:c.813G= XP_011520465.1:p.Val271=
XM_011522165.2:c.609G= XP_011520467.1:p.Val203=
XM_011522166.2:c.813G= XP_011520468.1:p.Val271=
XM_011522167.2:c.813G= XP_011520469.1:p.Val271=
XM_011522168.3:c.813G= XP_011520470.1:p.Val271=
XM_011522169.2:c.798+1034G= XP_011520471.1:n.798+1034G=
XR_931936.2:n.1261G=
XR_931937.2:n.1204G=
XR_931938.2:n.1261G=
XR_931939.2:n.1246+1034G=
NM_001321135.2:c.756G= NP_001308064.1:p.Val252=
NM_001321136.2:c.729G= NP_001308065.1:p.Val243=
NM_003978.5:c.756G= MANE Select NP_003969.2:p.Val252=
NR_135552.2:n.1109+1034G=