Canonical Allele Identifier: CA273757888
Gene: PSTPIP1 HGNC NCBI

Linked Data

dbSNP Id: rs552576989

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.77030582G>A , CM000677.2:g.77030582G>A GRCh38
NC_000015.9:g.77322923G>A , CM000677.1:g.77322923G>A GRCh37
NC_000015.8:g.75109978G>A NCBI36
NG_007526.1:g.40459G>A , LRG_172:g.40459G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000697622.1:n.322+1G>A
ENST00000697623.1:n.1042+1G>A
ENST00000558012.6:c.642+1G>A MANE Select ENSP00000452746.1:n.642+1G>A
ENST00000379595.7:c.642+1G>A ENSP00000368914.3:n.642+1G>A
ENST00000557995.1:n.306+1G>A
ENST00000558012.5:c.642+1G>A ENSP00000452746.1:n.642+1G>A
ENST00000559295.5:c.642+1G>A ENSP00000452743.1:n.642+1G>A
ENST00000559750.5:c.*283+1G>A ENSP00000453531.1:n.*283+1G>A
ENST00000559785.5:c.837+1G>A ENSP00000452986.1:n.837+1G>A
ENST00000559856.1:c.561+1G>A ENSP00000453382.1:n.561+1G>A
ENST00000560223.5:c.*744+1G>A ENSP00000454118.1:n.*744+1G>A
ENST00000560377.5:n.883+1G>A
ENST00000561315.5:n.415+1G>A
NM_003978.3:c.642+1G>A , LRG_172t1:c.642+1G>A NP_003969.2:n.642+1G>A
XM_006720737.2:c.276+1G>A XP_006720800.1:n.276+1G>A
XM_011522163.1:c.699+1G>A XP_011520465.1:n.699+1G>A
XM_011522164.1:c.597+1G>A XP_011520466.1:n.597+1G>A
XM_011522165.1:c.495+1G>A XP_011520467.1:n.495+1G>A
XM_011522166.1:c.699+1G>A XP_011520468.1:n.699+1G>A
XM_011522167.1:c.699+1G>A XP_011520469.1:n.699+1G>A
XM_011522168.1:c.699+1G>A XP_011520470.1:n.699+1G>A
XM_011522169.1:c.699+1G>A XP_011520471.1:n.699+1G>A
XM_011522170.1:c.371+1008G>A XP_011520472.1:n.371+1008G>A
XM_011522171.1:c.311+1008G>A XP_011520473.1:n.311+1008G>A
XM_011522172.1:c.311+1008G>A XP_011520474.1:n.311+1008G>A
XM_011522173.1:c.311+1008G>A XP_011520475.1:n.311+1008G>A
XR_931936.1:n.1149+1G>A
XR_931937.1:n.1092+1G>A
XR_931938.1:n.1149+1G>A
XR_931939.1:n.1149+1G>A
XR_931940.1:n.1069+1008G>A
NM_001321135.1:c.642+1G>A NP_001308064.1:n.642+1G>A
NM_001321136.1:c.615+1G>A NP_001308065.1:n.615+1G>A
NM_001321137.1:c.837+1G>A NP_001308066.1:n.837+1G>A
NM_003978.4:c.642+1G>A NP_003969.2:n.642+1G>A
NR_135552.1:n.1052-598G>A
XM_006720737.3:c.276+1G>A XP_006720800.1:n.276+1G>A
XM_011522163.2:c.699+1G>A XP_011520465.1:n.699+1G>A
XM_011522165.2:c.495+1G>A XP_011520467.1:n.495+1G>A
XM_011522166.2:c.699+1G>A XP_011520468.1:n.699+1G>A
XM_011522167.2:c.699+1G>A XP_011520469.1:n.699+1G>A
XM_011522168.3:c.699+1G>A XP_011520470.1:n.699+1G>A
XM_011522169.2:c.699+1G>A XP_011520471.1:n.699+1G>A
XR_931936.2:n.1147+1G>A
XR_931937.2:n.1090+1G>A
XR_931938.2:n.1147+1G>A
XR_931939.2:n.1147+1G>A
NM_001321135.2:c.642+1G>A NP_001308064.1:n.642+1G>A
NM_001321136.2:c.615+1G>A NP_001308065.1:n.615+1G>A
NM_003978.5:c.642+1G>A MANE Select NP_003969.2:n.642+1G>A
NR_135552.2:n.1011-598G>A