Canonical Allele Identifier: CA292932

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77025624C>T , CM000677.2:g.77025624C>T	GRCh38
NC_000015.9:g.77317965C>T , CM000677.1:g.77317965C>T	GRCh37
NC_000015.8:g.75105020C>T	NCBI36
NG_007526.1:g.35501C>T , LRG_172:g.35501C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.41-2234C>T
ENST00000697623.1:n.702+20C>T
ENST00000558012.6:c.354+20C>T MANE Select	ENSP00000452746.1:n.354+20C>T
ENST00000379595.7:c.354+20C>T	ENSP00000368914.3:n.354+20C>T
ENST00000558012.5:c.354+20C>T	ENSP00000452746.1:n.354+20C>T
ENST00000559161.5:c.354+20C>T	ENSP00000453372.1:n.354+20C>T
ENST00000559295.5:c.354+20C>T	ENSP00000452743.1:n.354+20C>T
ENST00000559750.5:c.354+20C>T	ENSP00000453531.1:n.354+20C>T
ENST00000559785.5:c.549+20C>T	ENSP00000452986.1:n.549+20C>T
ENST00000559856.1:c.216+20C>T	ENSP00000453382.1:n.216+20C>T
ENST00000559859.5:c.327+20C>T	ENSP00000453218.1:n.327+20C>T
ENST00000560223.5:c.*456+20C>T	ENSP00000454118.1:n.*456+20C>T
ENST00000560377.5:n.543+20C>T
ENST00000560796.5:c.252+20C>T	ENSP00000454127.1:n.252+20C>T
NM_003978.3:c.354+20C>T , LRG_172t1:c.354+20C>T	NP_003969.2:n.354+20C>T
XM_006720737.2:c.-65+20C>T	XP_006720800.1:n.-65+20C>T
XM_011522163.1:c.354+20C>T	XP_011520465.1:n.354+20C>T
XM_011522164.1:c.252+20C>T	XP_011520466.1:n.252+20C>T
XM_011522165.1:c.150+20C>T	XP_011520467.1:n.150+20C>T
XM_011522166.1:c.354+20C>T	XP_011520468.1:n.354+20C>T
XM_011522167.1:c.354+20C>T	XP_011520469.1:n.354+20C>T
XM_011522168.1:c.354+20C>T	XP_011520470.1:n.354+20C>T
XM_011522169.1:c.354+20C>T	XP_011520471.1:n.354+20C>T
XM_011522171.1:c.-2+20C>T	XP_011520473.1:n.-2+20C>T
XM_011522172.1:c.-54+20C>T	XP_011520474.1:n.-54+20C>T
XR_931936.1:n.804+20C>T
XR_931937.1:n.804+20C>T
XR_931938.1:n.804+20C>T
XR_931939.1:n.804+20C>T
XR_931940.1:n.804+20C>T
NM_001321135.1:c.354+20C>T	NP_001308064.1:n.354+20C>T
NM_001321136.1:c.327+20C>T	NP_001308065.1:n.327+20C>T
NM_001321137.1:c.549+20C>T	NP_001308066.1:n.549+20C>T
NM_003978.4:c.354+20C>T	NP_003969.2:n.354+20C>T
NR_135552.1:n.843+20C>T
XM_006720737.3:c.-65+20C>T	XP_006720800.1:n.-65+20C>T
XM_011522163.2:c.354+20C>T	XP_011520465.1:n.354+20C>T
XM_011522165.2:c.150+20C>T	XP_011520467.1:n.150+20C>T
XM_011522166.2:c.354+20C>T	XP_011520468.1:n.354+20C>T
XM_011522167.2:c.354+20C>T	XP_011520469.1:n.354+20C>T
XM_011522168.3:c.354+20C>T	XP_011520470.1:n.354+20C>T
XM_011522169.2:c.354+20C>T	XP_011520471.1:n.354+20C>T
XR_931936.2:n.802+20C>T
XR_931937.2:n.802+20C>T
XR_931938.2:n.802+20C>T
XR_931939.2:n.802+20C>T
NM_001321135.2:c.354+20C>T	NP_001308064.1:n.354+20C>T
NM_001321136.2:c.327+20C>T	NP_001308065.1:n.327+20C>T
NM_003978.5:c.354+20C>T MANE Select	NP_003969.2:n.354+20C>T
NR_135552.2:n.802+20C>T