Canonical Allele Identifier: CA7675988

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 1003913
• ClinVar RCV Id: RCV001300535
• dbSNP Id: rs770215969
• ExAC: 15:77324703 T / A
• gnomAD v2: 15-77324703-T-A
• gnomAD v4: 15-77032362-T-A
• MyVariant Identifiers: chr15:g.77324703T>A (hg19) ; chr15:g.77032362T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032362T>A , CM000677.2:g.77032362T>A	GRCh38
NC_000015.9:g.77324703T>A , CM000677.1:g.77324703T>A	GRCh37
NC_000015.8:g.75111758T>A	NCBI36
NG_007526.1:g.42239T>A , LRG_172:g.42239T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.1505T>A
ENST00000697623.1:n.2225T>A
ENST00000558012.6:c.806T>A MANE Select	ENSP00000452746.1:p.Ile269Asn
ENST00000379595.7:c.806T>A	ENSP00000368914.3:p.Ile269Asn
ENST00000557995.1:n.470T>A
ENST00000558012.5:c.806T>A	ENSP00000452746.1:p.Ile269Asn
ENST00000558870.1:c.46T>A
ENST00000559295.5:c.806T>A	ENSP00000452743.1:p.Ile269Asn
ENST00000559785.5:c.1001T>A	ENSP00000452986.1:p.Ile334Asn
ENST00000559856.1:c.725T>A	ENSP00000453382.1:p.Ile242Asn
ENST00000560223.5:c.*908T>A	ENSP00000454118.1:n.*908T>A
ENST00000560377.5:n.1047T>A
NM_003978.3:c.806T>A , LRG_172t1:c.806T>A	NP_003969.2:p.Ile269Asn
XM_006720737.2:c.440T>A	XP_006720800.1:p.Ile147Asn
XM_011522163.1:c.863T>A	XP_011520465.1:p.Ile288Asn
XM_011522164.1:c.761T>A	XP_011520466.1:p.Ile254Asn
XM_011522165.1:c.659T>A	XP_011520467.1:p.Ile220Asn
XM_011522166.1:c.863T>A	XP_011520468.1:p.Ile288Asn
XM_011522167.1:c.863T>A	XP_011520469.1:p.Ile288Asn
XM_011522168.1:c.863T>A	XP_011520470.1:p.Ile288Asn
XM_011522169.1:c.798+1084T>A	XP_011520471.1:n.798+1084T>A
XM_011522170.1:c.371+2788T>A	XP_011520472.1:n.371+2788T>A
XM_011522171.1:c.311+2788T>A	XP_011520473.1:n.311+2788T>A
XM_011522172.1:c.311+2788T>A	XP_011520474.1:n.311+2788T>A
XM_011522173.1:c.311+2788T>A	XP_011520475.1:n.311+2788T>A
XR_931936.1:n.1313T>A
XR_931937.1:n.1256T>A
XR_931938.1:n.1313T>A
XR_931939.1:n.1248+1084T>A
XR_931940.1:n.1069+2788T>A
NM_001321135.1:c.806T>A	NP_001308064.1:p.Ile269Asn
NM_001321136.1:c.779T>A	NP_001308065.1:p.Ile260Asn
NM_001321137.1:c.1001T>A	NP_001308066.1:p.Ile334Asn
NM_003978.4:c.806T>A	NP_003969.2:p.Ile269Asn
NR_135552.1:n.1150+1084T>A
XM_006720737.3:c.440T>A	XP_006720800.1:p.Ile147Asn
XM_011522163.2:c.863T>A	XP_011520465.1:p.Ile288Asn
XM_011522165.2:c.659T>A	XP_011520467.1:p.Ile220Asn
XM_011522166.2:c.863T>A	XP_011520468.1:p.Ile288Asn
XM_011522167.2:c.863T>A	XP_011520469.1:p.Ile288Asn
XM_011522168.3:c.863T>A	XP_011520470.1:p.Ile288Asn
XM_011522169.2:c.798+1084T>A	XP_011520471.1:n.798+1084T>A
XR_931936.2:n.1311T>A
XR_931937.2:n.1254T>A
XR_931938.2:n.1311T>A
XR_931939.2:n.1246+1084T>A
NM_001321135.2:c.806T>A	NP_001308064.1:p.Ile269Asn
NM_001321136.2:c.779T>A	NP_001308065.1:p.Ile260Asn
NM_003978.5:c.806T>A MANE Select	NP_003969.2:p.Ile269Asn
NR_135552.2:n.1109+1084T>A