Canonical Allele Identifier: CA971682285

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs796077160
• gnomAD v3: 15-77032525-C-T
• gnomAD v4: 15-77032525-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032525C>T , CM000677.2:g.77032525C>T	GRCh38
NC_000015.9:g.77324866C>T , CM000677.1:g.77324866C>T	GRCh37
NC_000015.8:g.75111921C>T	NCBI36
NG_007526.1:g.42402C>T , LRG_172:g.42402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1668C>T
ENST00000697623.1:n.2257+131C>T
ENST00000558012.6:c.838+131C>T MANE Select	ENSP00000452746.1:n.838+131C>T
ENST00000379595.7:c.838+131C>T	ENSP00000368914.3:n.838+131C>T
ENST00000557995.1:n.502+131C>T
ENST00000558012.5:c.838+131C>T	ENSP00000452746.1:n.838+131C>T
ENST00000558870.1:c.78+131C>T
ENST00000559295.5:c.872+97C>T	ENSP00000452743.1:n.872+97C>T
ENST00000559785.5:c.1067+97C>T	ENSP00000452986.1:n.1067+97C>T
ENST00000560223.5:c.*940+131C>T	ENSP00000454118.1:n.*940+131C>T
ENST00000560377.5:n.1210C>T
NM_003978.3:c.838+131C>T , LRG_172t1:c.838+131C>T	NP_003969.2:n.838+131C>T
XM_006720737.2:c.472+131C>T	XP_006720800.1:n.472+131C>T
XM_011522163.1:c.895+131C>T	XP_011520465.1:n.895+131C>T
XM_011522164.1:c.793+131C>T	XP_011520466.1:n.793+131C>T
XM_011522165.1:c.691+131C>T	XP_011520467.1:n.691+131C>T
XM_011522166.1:c.929+97C>T	XP_011520468.1:n.929+97C>T
XM_011522167.1:c.895+131C>T	XP_011520469.1:n.895+131C>T
XM_011522168.1:c.895+131C>T	XP_011520470.1:n.895+131C>T
XM_011522169.1:c.798+1247C>T	XP_011520471.1:n.798+1247C>T
XM_011522170.1:c.371+2951C>T	XP_011520472.1:n.371+2951C>T
XM_011522171.1:c.311+2951C>T	XP_011520473.1:n.311+2951C>T
XM_011522172.1:c.311+2951C>T	XP_011520474.1:n.311+2951C>T
XM_011522173.1:c.311+2951C>T	XP_011520475.1:n.311+2951C>T
XR_931936.1:n.1379+97C>T
XR_931937.1:n.1322+97C>T
XR_931938.1:n.1345+131C>T
XR_931939.1:n.1248+1247C>T
XR_931940.1:n.1069+2951C>T
NM_001321135.1:c.872+97C>T	NP_001308064.1:n.872+97C>T
NM_001321136.1:c.811+131C>T	NP_001308065.1:n.811+131C>T
NM_001321137.1:c.1033+131C>T	NP_001308066.1:n.1033+131C>T
NM_003978.4:c.838+131C>T	NP_003969.2:n.838+131C>T
NR_135552.1:n.1150+1247C>T
XM_006720737.3:c.472+131C>T	XP_006720800.1:n.472+131C>T
XM_011522163.2:c.895+131C>T	XP_011520465.1:n.895+131C>T
XM_011522165.2:c.691+131C>T	XP_011520467.1:n.691+131C>T
XM_011522166.2:c.929+97C>T	XP_011520468.1:n.929+97C>T
XM_011522167.2:c.895+131C>T	XP_011520469.1:n.895+131C>T
XM_011522168.3:c.895+131C>T	XP_011520470.1:n.895+131C>T
XM_011522169.2:c.798+1247C>T	XP_011520471.1:n.798+1247C>T
XR_931936.2:n.1377+97C>T
XR_931937.2:n.1320+97C>T
XR_931938.2:n.1343+131C>T
XR_931939.2:n.1246+1247C>T
NM_001321135.2:c.872+97C>T	NP_001308064.1:n.872+97C>T
NM_001321136.2:c.811+131C>T	NP_001308065.1:n.811+131C>T
NM_003978.5:c.838+131C>T MANE Select	NP_003969.2:n.838+131C>T
NR_135552.2:n.1109+1247C>T