Canonical Allele Identifier: CA150157

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 97810
• ClinVar RCV Id: RCV000084063 ; RCV000215780
• dbSNP Id: rs28939089
• MyVariant Identifiers: chr15:g.77324645G>A (hg19) ; chr15:g.77032304G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032304G>A , CM000677.2:g.77032304G>A	GRCh38
NC_000015.9:g.77324645G>A , CM000677.1:g.77324645G>A	GRCh37
NC_000015.8:g.75111700G>A	NCBI36
NG_007526.1:g.42181G>A , LRG_172:g.42181G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1447G>A
ENST00000697623.1:n.2167G>A
ENST00000558012.6:c.748G>A MANE Select	ENSP00000452746.1:p.Glu250Lys
ENST00000379595.7:c.748G>A	ENSP00000368914.3:p.Glu250Lys
ENST00000557995.1:n.412G>A
ENST00000558012.5:c.748G>A	ENSP00000452746.1:p.Glu250Lys
ENST00000559295.5:c.748G>A	ENSP00000452743.1:p.Glu250Lys
ENST00000559785.5:c.943G>A	ENSP00000452986.1:p.Glu315Lys
ENST00000559856.1:c.667G>A	ENSP00000453382.1:p.Glu223Lys
ENST00000560223.5:c.*850G>A	ENSP00000454118.1:n.*850G>A
ENST00000560377.5:n.989G>A
NM_003978.3:c.748G>A , LRG_172t1:c.748G>A	NP_003969.2:p.Glu250Lys
XM_006720737.2:c.382G>A	XP_006720800.1:p.Glu128Lys
XM_011522163.1:c.805G>A	XP_011520465.1:p.Glu269Lys
XM_011522164.1:c.703G>A	XP_011520466.1:p.Glu235Lys
XM_011522165.1:c.601G>A	XP_011520467.1:p.Glu201Lys
XM_011522166.1:c.805G>A	XP_011520468.1:p.Glu269Lys
XM_011522167.1:c.805G>A	XP_011520469.1:p.Glu269Lys
XM_011522168.1:c.805G>A	XP_011520470.1:p.Glu269Lys
XM_011522169.1:c.798+1026G>A	XP_011520471.1:n.798+1026G>A
XM_011522170.1:c.371+2730G>A	XP_011520472.1:n.371+2730G>A
XM_011522171.1:c.311+2730G>A	XP_011520473.1:n.311+2730G>A
XM_011522172.1:c.311+2730G>A	XP_011520474.1:n.311+2730G>A
XM_011522173.1:c.311+2730G>A	XP_011520475.1:n.311+2730G>A
XR_931936.1:n.1255G>A
XR_931937.1:n.1198G>A
XR_931938.1:n.1255G>A
XR_931939.1:n.1248+1026G>A
XR_931940.1:n.1069+2730G>A
NM_001321135.1:c.748G>A	NP_001308064.1:p.Glu250Lys
NM_001321136.1:c.721G>A	NP_001308065.1:p.Glu241Lys
NM_001321137.1:c.943G>A	NP_001308066.1:p.Glu315Lys
NM_003978.4:c.748G>A	NP_003969.2:p.Glu250Lys
NR_135552.1:n.1150+1026G>A
XM_006720737.3:c.382G>A	XP_006720800.1:p.Glu128Lys
XM_011522163.2:c.805G>A	XP_011520465.1:p.Glu269Lys
XM_011522165.2:c.601G>A	XP_011520467.1:p.Glu201Lys
XM_011522166.2:c.805G>A	XP_011520468.1:p.Glu269Lys
XM_011522167.2:c.805G>A	XP_011520469.1:p.Glu269Lys
XM_011522168.3:c.805G>A	XP_011520470.1:p.Glu269Lys
XM_011522169.2:c.798+1026G>A	XP_011520471.1:n.798+1026G>A
XR_931936.2:n.1253G>A
XR_931937.2:n.1196G>A
XR_931938.2:n.1253G>A
XR_931939.2:n.1246+1026G>A
NM_001321135.2:c.748G>A	NP_001308064.1:p.Glu250Lys
NM_001321136.2:c.721G>A	NP_001308065.1:p.Glu241Lys
NM_003978.5:c.748G>A MANE Select	NP_003969.2:p.Glu250Lys
NR_135552.2:n.1109+1026G>A