Canonical Allele Identifier: CA619193347

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs1397998751
• gnomAD v2: 15-77324932-G-A
• gnomAD v3: 15-77032591-G-A
• gnomAD v4: 15-77032591-G-A
• MyVariant Identifiers: chr15:g.77324932G>A (hg19) ; chr15:g.77032591G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032591G>A , CM000677.2:g.77032591G>A	GRCh38
NC_000015.9:g.77324932G>A , CM000677.1:g.77324932G>A	GRCh37
NC_000015.8:g.75111987G>A	NCBI36
NG_007526.1:g.42468G>A , LRG_172:g.42468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1734G>A
ENST00000697623.1:n.2257+197G>A
ENST00000558012.6:c.838+197G>A MANE Select	ENSP00000452746.1:n.838+197G>A
ENST00000379595.7:c.838+197G>A	ENSP00000368914.3:n.838+197G>A
ENST00000557995.1:n.502+197G>A
ENST00000558012.5:c.838+197G>A	ENSP00000452746.1:n.838+197G>A
ENST00000558870.1:c.78+197G>A
ENST00000559295.5:c.872+163G>A	ENSP00000452743.1:n.872+163G>A
ENST00000559785.5:c.1067+163G>A	ENSP00000452986.1:n.1067+163G>A
ENST00000560223.5:c.*940+197G>A	ENSP00000454118.1:n.*940+197G>A
ENST00000560377.5:n.1276G>A
NM_003978.3:c.838+197G>A , LRG_172t1:c.838+197G>A	NP_003969.2:n.838+197G>A
XM_006720737.2:c.472+197G>A	XP_006720800.1:n.472+197G>A
XM_011522163.1:c.895+197G>A	XP_011520465.1:n.895+197G>A
XM_011522164.1:c.793+197G>A	XP_011520466.1:n.793+197G>A
XM_011522165.1:c.691+197G>A	XP_011520467.1:n.691+197G>A
XM_011522166.1:c.929+163G>A	XP_011520468.1:n.929+163G>A
XM_011522167.1:c.895+197G>A	XP_011520469.1:n.895+197G>A
XM_011522168.1:c.895+197G>A	XP_011520470.1:n.895+197G>A
XM_011522169.1:c.798+1313G>A	XP_011520471.1:n.798+1313G>A
XM_011522170.1:c.372-2917G>A	XP_011520472.1:n.372-2917G>A
XM_011522171.1:c.312-2917G>A	XP_011520473.1:n.312-2917G>A
XM_011522172.1:c.312-2917G>A	XP_011520474.1:n.312-2917G>A
XM_011522173.1:c.312-2917G>A	XP_011520475.1:n.312-2917G>A
XR_931936.1:n.1379+163G>A
XR_931937.1:n.1322+163G>A
XR_931938.1:n.1345+197G>A
XR_931939.1:n.1248+1313G>A
XR_931940.1:n.1070-2917G>A
NM_001321135.1:c.872+163G>A	NP_001308064.1:n.872+163G>A
NM_001321136.1:c.811+197G>A	NP_001308065.1:n.811+197G>A
NM_001321137.1:c.1033+197G>A	NP_001308066.1:n.1033+197G>A
NM_003978.4:c.838+197G>A	NP_003969.2:n.838+197G>A
NR_135552.1:n.1150+1313G>A
XM_006720737.3:c.472+197G>A	XP_006720800.1:n.472+197G>A
XM_011522163.2:c.895+197G>A	XP_011520465.1:n.895+197G>A
XM_011522165.2:c.691+197G>A	XP_011520467.1:n.691+197G>A
XM_011522166.2:c.929+163G>A	XP_011520468.1:n.929+163G>A
XM_011522167.2:c.895+197G>A	XP_011520469.1:n.895+197G>A
XM_011522168.3:c.895+197G>A	XP_011520470.1:n.895+197G>A
XM_011522169.2:c.798+1313G>A	XP_011520471.1:n.798+1313G>A
XR_931936.2:n.1377+163G>A
XR_931937.2:n.1320+163G>A
XR_931938.2:n.1343+197G>A
XR_931939.2:n.1246+1313G>A
NM_001321135.2:c.872+163G>A	NP_001308064.1:n.872+163G>A
NM_001321136.2:c.811+197G>A	NP_001308065.1:n.811+197G>A
NM_003978.5:c.838+197G>A MANE Select	NP_003969.2:n.838+197G>A
NR_135552.2:n.1109+1313G>A