Canonical Allele Identifier: CA491336022

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032932-G-T
• MyVariant Identifiers: chr15:g.77325273G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032932G>T , CM000677.2:g.77032932G>T	GRCh38
NC_000015.9:g.77325273G>T , CM000677.1:g.77325273G>T	GRCh37
NC_000015.8:g.75112328G>T	NCBI36
NG_007526.1:g.42809G>T , LRG_172:g.42809G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2075G>T
ENST00000697623.1:n.2328G>T
ENST00000558012.6:c.909G>T MANE Select	ENSP00000452746.1:p.Pro303=
ENST00000379595.7:c.909G>T	ENSP00000368914.3:p.Pro303=
ENST00000557995.1:n.573G>T
ENST00000558012.5:c.909G>T	ENSP00000452746.1:p.Pro303=
ENST00000558870.1:c.78+538G>T
ENST00000559295.5:c.872+504G>T	ENSP00000452743.1:n.872+504G>T
ENST00000559785.5:c.1138G>T	ENSP00000452986.1:p.Val380Phe
ENST00000560223.5:c.*1011G>T	ENSP00000454118.1:n.*1011G>T
NM_003978.3:c.909G>T , LRG_172t1:c.909G>T	NP_003969.2:p.Pro303=
XM_006720737.2:c.543G>T	XP_006720800.1:p.Pro181=
XM_011522163.1:c.966G>T	XP_011520465.1:p.Pro322=
XM_011522164.1:c.864G>T	XP_011520466.1:p.Pro288=
XM_011522165.1:c.762G>T	XP_011520467.1:p.Pro254=
XM_011522166.1:c.1000G>T	XP_011520468.1:p.Val334Phe
XM_011522167.1:c.895+538G>T	XP_011520469.1:n.895+538G>T
XM_011522168.1:c.966G>T	XP_011520470.1:p.Pro322=
XM_011522169.1:c.798+1654G>T	XP_011520471.1:n.798+1654G>T
XM_011522170.1:c.372-2576G>T	XP_011520472.1:n.372-2576G>T
XM_011522171.1:c.312-2576G>T	XP_011520473.1:n.312-2576G>T
XM_011522172.1:c.312-2576G>T	XP_011520474.1:n.312-2576G>T
XM_011522173.1:c.312-2576G>T	XP_011520475.1:n.312-2576G>T
XR_931936.1:n.1450G>T
XR_931937.1:n.1393G>T
XR_931938.1:n.1345+538G>T
XR_931939.1:n.1248+1654G>T
XR_931940.1:n.1070-2576G>T
NM_001321135.1:c.872+504G>T	NP_001308064.1:n.872+504G>T
NM_001321136.1:c.882G>T	NP_001308065.1:p.Pro294=
NM_001321137.1:c.1104G>T	NP_001308066.1:p.Pro368=
NM_003978.4:c.909G>T	NP_003969.2:p.Pro303=
NR_135552.1:n.1150+1654G>T
XM_006720737.3:c.543G>T	XP_006720800.1:p.Pro181=
XM_011522163.2:c.966G>T	XP_011520465.1:p.Pro322=
XM_011522165.2:c.762G>T	XP_011520467.1:p.Pro254=
XM_011522166.2:c.1000G>T	XP_011520468.1:p.Val334Phe
XM_011522167.2:c.895+538G>T	XP_011520469.1:n.895+538G>T
XM_011522168.3:c.966G>T	XP_011520470.1:p.Pro322=
XM_011522169.2:c.798+1654G>T	XP_011520471.1:n.798+1654G>T
XR_931936.2:n.1448G>T
XR_931937.2:n.1391G>T
XR_931938.2:n.1343+538G>T
XR_931939.2:n.1246+1654G>T
NM_001321135.2:c.872+504G>T	NP_001308064.1:n.872+504G>T
NM_001321136.2:c.882G>T	NP_001308065.1:p.Pro294=
NM_003978.5:c.909G>T MANE Select	NP_003969.2:p.Pro303=
NR_135552.2:n.1109+1654G>T