Canonical Allele Identifier: CA7676213

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 1584548
• ClinVar RCV Id: RCV002102673
• dbSNP Id: rs138056015
• ExAC: 15:77329427 G / A
• gnomAD v2: 15-77329427-G-A
• gnomAD v3: 15-77037086-G-A
• gnomAD v4: 15-77037086-G-A
• MyVariant Identifiers: chr15:g.77329427G>A (hg19) ; chr15:g.77037086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037086G>A , CM000677.2:g.77037086G>A	GRCh38
NC_000015.9:g.77329427G>A , CM000677.1:g.77329427G>A	GRCh37
NC_000015.8:g.75116482G>A	NCBI36
NG_007526.1:g.46963G>A , LRG_172:g.46963G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2327G>A
ENST00000697623.1:n.2580G>A
ENST00000558012.6:c.1161G>A MANE Select	ENSP00000452746.1:p.Glu387=
ENST00000379595.7:c.1152G>A	ENSP00000368914.3:p.Glu384=
ENST00000557995.1:n.825G>A
ENST00000558012.5:c.1161G>A	ENSP00000452746.1:p.Glu387=
ENST00000558870.1:c.310G>A
ENST00000559295.5:c.1104G>A	ENSP00000452743.1:p.Glu368=
ENST00000559785.5:c.*136G>A	ENSP00000452986.1:n.*136G>A
ENST00000560064.1:n.284G>A
ENST00000560223.5:c.*1263G>A	ENSP00000454118.1:n.*1263G>A
NM_003978.3:c.1161G>A , LRG_172t1:c.1161G>A	NP_003969.2:p.Glu387=
XM_006720737.2:c.795G>A	XP_006720800.1:p.Glu265=
XM_011522163.1:c.1209G>A	XP_011520465.1:p.Glu403=
XM_011522164.1:c.1116G>A	XP_011520466.1:p.Glu372=
XM_011522165.1:c.1014G>A	XP_011520467.1:p.Glu338=
XM_011522168.1:c.1218G>A	XP_011520470.1:p.Glu406=
XM_011522170.1:c.603G>A	XP_011520472.1:p.Glu201=
XM_011522171.1:c.543G>A	XP_011520473.1:p.Glu181=
XM_011522172.1:c.543G>A	XP_011520474.1:p.Glu181=
XM_011522173.1:c.543G>A	XP_011520475.1:p.Glu181=
XR_931936.1:n.1702G>A
XR_931937.1:n.1645G>A
XR_931938.1:n.1577G>A
XR_931939.1:n.1480G>A
XR_931940.1:n.1301G>A
NM_001321135.1:c.1104G>A	NP_001308064.1:p.Glu368=
NM_001321136.1:c.1134G>A	NP_001308065.1:p.Glu378=
NM_001321137.1:c.1356G>A	NP_001308066.1:p.Glu452=
NM_003978.4:c.1161G>A	NP_003969.2:p.Glu387=
NR_135552.1:n.1382G>A
XM_006720737.3:c.795G>A	XP_006720800.1:p.Glu265=
XM_011522163.2:c.1209G>A	XP_011520465.1:p.Glu403=
XM_011522165.2:c.1014G>A	XP_011520467.1:p.Glu338=
XM_011522168.3:c.1218G>A	XP_011520470.1:p.Glu406=
XR_931936.2:n.1700G>A
XR_931937.2:n.1643G>A
XR_931938.2:n.1575G>A
XR_931939.2:n.1478G>A
NM_001321135.2:c.1104G>A	NP_001308064.1:p.Glu368=
NM_001321136.2:c.1134G>A	NP_001308065.1:p.Glu378=
NM_003978.5:c.1161G>A MANE Select	NP_003969.2:p.Glu387=
NR_135552.2:n.1341G>A