Canonical Allele Identifier: CA393521317

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 955410
• ClinVar RCV Id: RCV001228048
• dbSNP Id: rs2076455169
• gnomAD v4: 15-77032861-G-T
• MyVariant Identifiers: chr15:g.77325202G>T (hg19) ; chr15:g.77032861G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032861G>T , CM000677.2:g.77032861G>T	GRCh38
NC_000015.9:g.77325202G>T , CM000677.1:g.77325202G>T	GRCh37
NC_000015.8:g.75112257G>T	NCBI36
NG_007526.1:g.42738G>T , LRG_172:g.42738G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2004G>T
ENST00000697623.1:n.2258-1G>T
ENST00000558012.6:c.839-1G>T MANE Select	ENSP00000452746.1:n.839-1G>T
ENST00000379595.7:c.839-1G>T	ENSP00000368914.3:n.839-1G>T
ENST00000557995.1:n.503-1G>T
ENST00000558012.5:c.839-1G>T	ENSP00000452746.1:n.839-1G>T
ENST00000558870.1:c.78+467G>T
ENST00000559295.5:c.872+433G>T	ENSP00000452743.1:n.872+433G>T
ENST00000559785.5:c.1068-1G>T	ENSP00000452986.1:n.1068-1G>T
ENST00000560223.5:c.*941-1G>T	ENSP00000454118.1:n.*941-1G>T
ENST00000560377.5:n.1546G>T
NM_003978.3:c.839-1G>T , LRG_172t1:c.839-1G>T	NP_003969.2:n.839-1G>T
XM_006720737.2:c.473-1G>T	XP_006720800.1:n.473-1G>T
XM_011522163.1:c.896-1G>T	XP_011520465.1:n.896-1G>T
XM_011522164.1:c.794-1G>T	XP_011520466.1:n.794-1G>T
XM_011522165.1:c.692-1G>T	XP_011520467.1:n.692-1G>T
XM_011522166.1:c.930-1G>T	XP_011520468.1:n.930-1G>T
XM_011522167.1:c.895+467G>T	XP_011520469.1:n.895+467G>T
XM_011522168.1:c.896-1G>T	XP_011520470.1:n.896-1G>T
XM_011522169.1:c.798+1583G>T	XP_011520471.1:n.798+1583G>T
XM_011522170.1:c.372-2647G>T	XP_011520472.1:n.372-2647G>T
XM_011522171.1:c.312-2647G>T	XP_011520473.1:n.312-2647G>T
XM_011522172.1:c.312-2647G>T	XP_011520474.1:n.312-2647G>T
XM_011522173.1:c.312-2647G>T	XP_011520475.1:n.312-2647G>T
XR_931936.1:n.1380-1G>T
XR_931937.1:n.1323-1G>T
XR_931938.1:n.1345+467G>T
XR_931939.1:n.1248+1583G>T
XR_931940.1:n.1070-2647G>T
NM_001321135.1:c.872+433G>T	NP_001308064.1:n.872+433G>T
NM_001321136.1:c.812-1G>T	NP_001308065.1:n.812-1G>T
NM_001321137.1:c.1034-1G>T	NP_001308066.1:n.1034-1G>T
NM_003978.4:c.839-1G>T	NP_003969.2:n.839-1G>T
NR_135552.1:n.1150+1583G>T
XM_006720737.3:c.473-1G>T	XP_006720800.1:n.473-1G>T
XM_011522163.2:c.896-1G>T	XP_011520465.1:n.896-1G>T
XM_011522165.2:c.692-1G>T	XP_011520467.1:n.692-1G>T
XM_011522166.2:c.930-1G>T	XP_011520468.1:n.930-1G>T
XM_011522167.2:c.895+467G>T	XP_011520469.1:n.895+467G>T
XM_011522168.3:c.896-1G>T	XP_011520470.1:n.896-1G>T
XM_011522169.2:c.798+1583G>T	XP_011520471.1:n.798+1583G>T
XR_931936.2:n.1378-1G>T
XR_931937.2:n.1321-1G>T
XR_931938.2:n.1343+467G>T
XR_931939.2:n.1246+1583G>T
NM_001321135.2:c.872+433G>T	NP_001308064.1:n.872+433G>T
NM_001321136.2:c.812-1G>T	NP_001308065.1:n.812-1G>T
NM_003978.5:c.839-1G>T MANE Select	NP_003969.2:n.839-1G>T
NR_135552.2:n.1109+1583G>T