Canonical Allele Identifier: CA292930

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77025338G>A , CM000677.2:g.77025338G>A	GRCh38
NC_000015.9:g.77317679G>A , CM000677.1:g.77317679G>A	GRCh37
NC_000015.8:g.75104734G>A	NCBI36
NG_007526.1:g.35215G>A , LRG_172:g.35215G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.41-2520G>A
ENST00000697623.1:n.595+20G>A
ENST00000558012.6:c.247+20G>A MANE Select	ENSP00000452746.1:n.247+20G>A
ENST00000379595.7:c.247+20G>A	ENSP00000368914.3:n.247+20G>A
ENST00000558012.5:c.247+20G>A	ENSP00000452746.1:n.247+20G>A
ENST00000558407.5:c.442+20G>A	ENSP00000453268.1:n.442+20G>A
ENST00000559161.5:c.247+20G>A	ENSP00000453372.1:n.247+20G>A
ENST00000559295.5:c.247+20G>A	ENSP00000452743.1:n.247+20G>A
ENST00000559750.5:c.247+20G>A	ENSP00000453531.1:n.247+20G>A
ENST00000559785.5:c.442+20G>A	ENSP00000452986.1:n.442+20G>A
ENST00000559856.1:c.109+20G>A	ENSP00000453382.1:n.109+20G>A
ENST00000559859.5:c.220+20G>A	ENSP00000453218.1:n.220+20G>A
ENST00000560223.5:c.*349+20G>A	ENSP00000454118.1:n.*349+20G>A
ENST00000560377.5:n.436+20G>A
ENST00000560796.5:c.145+20G>A	ENSP00000454127.1:n.145+20G>A
NM_003978.3:c.247+20G>A , LRG_172t1:c.247+20G>A	NP_003969.2:n.247+20G>A
XM_006720737.2:c.-172+20G>A	XP_006720800.1:n.-172+20G>A
XM_011522163.1:c.247+20G>A	XP_011520465.1:n.247+20G>A
XM_011522164.1:c.145+20G>A	XP_011520466.1:n.145+20G>A
XM_011522165.1:c.43+20G>A	XP_011520467.1:n.43+20G>A
XM_011522166.1:c.247+20G>A	XP_011520468.1:n.247+20G>A
XM_011522167.1:c.247+20G>A	XP_011520469.1:n.247+20G>A
XM_011522168.1:c.247+20G>A	XP_011520470.1:n.247+20G>A
XM_011522169.1:c.247+20G>A	XP_011520471.1:n.247+20G>A
XM_011522171.1:c.-109+20G>A	XP_011520473.1:n.-109+20G>A
XM_011522172.1:c.-161+20G>A	XP_011520474.1:n.-161+20G>A
XR_931936.1:n.697+20G>A
XR_931937.1:n.697+20G>A
XR_931938.1:n.697+20G>A
XR_931939.1:n.697+20G>A
XR_931940.1:n.697+20G>A
NM_001321135.1:c.247+20G>A	NP_001308064.1:n.247+20G>A
NM_001321136.1:c.220+20G>A	NP_001308065.1:n.220+20G>A
NM_001321137.1:c.442+20G>A	NP_001308066.1:n.442+20G>A
NM_003978.4:c.247+20G>A	NP_003969.2:n.247+20G>A
NR_135552.1:n.736+20G>A
XM_006720737.3:c.-172+20G>A	XP_006720800.1:n.-172+20G>A
XM_011522163.2:c.247+20G>A	XP_011520465.1:n.247+20G>A
XM_011522165.2:c.43+20G>A	XP_011520467.1:n.43+20G>A
XM_011522166.2:c.247+20G>A	XP_011520468.1:n.247+20G>A
XM_011522167.2:c.247+20G>A	XP_011520469.1:n.247+20G>A
XM_011522168.3:c.247+20G>A	XP_011520470.1:n.247+20G>A
XM_011522169.2:c.247+20G>A	XP_011520471.1:n.247+20G>A
XR_931936.2:n.695+20G>A
XR_931937.2:n.695+20G>A
XR_931938.2:n.695+20G>A
XR_931939.2:n.695+20G>A
NM_001321135.2:c.247+20G>A	NP_001308064.1:n.247+20G>A
NM_001321136.2:c.220+20G>A	NP_001308065.1:n.220+20G>A
NM_003978.5:c.247+20G>A MANE Select	NP_003969.2:n.247+20G>A
NR_135552.2:n.695+20G>A