Canonical Allele Identifier: CA393521149

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 2812950
• ClinVar RCV Id: RCV003612678
• gnomAD v4: 15-77032353-A-C
• MyVariant Identifiers: chr15:g.77324694A>C (hg19) ; chr15:g.77032353A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032353A>C , CM000677.2:g.77032353A>C	GRCh38
NC_000015.9:g.77324694A>C , CM000677.1:g.77324694A>C	GRCh37
NC_000015.8:g.75111749A>C	NCBI36
NG_007526.1:g.42230A>C , LRG_172:g.42230A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.1496A>C
ENST00000697623.1:n.2216A>C
ENST00000558012.6:c.797A>C MANE Select	ENSP00000452746.1:p.Asp266Ala
ENST00000379595.7:c.797A>C	ENSP00000368914.3:p.Asp266Ala
ENST00000557995.1:n.461A>C
ENST00000558012.5:c.797A>C	ENSP00000452746.1:p.Asp266Ala
ENST00000558870.1:c.37A>C
ENST00000559295.5:c.797A>C	ENSP00000452743.1:p.Asp266Ala
ENST00000559785.5:c.992A>C	ENSP00000452986.1:p.Asp331Ala
ENST00000559856.1:c.716A>C	ENSP00000453382.1:p.Asp239Ala
ENST00000560223.5:c.*899A>C	ENSP00000454118.1:n.*899A>C
ENST00000560377.5:n.1038A>C
NM_003978.3:c.797A>C , LRG_172t1:c.797A>C	NP_003969.2:p.Asp266Ala
XM_006720737.2:c.431A>C	XP_006720800.1:p.Asp144Ala
XM_011522163.1:c.854A>C	XP_011520465.1:p.Asp285Ala
XM_011522164.1:c.752A>C	XP_011520466.1:p.Asp251Ala
XM_011522165.1:c.650A>C	XP_011520467.1:p.Asp217Ala
XM_011522166.1:c.854A>C	XP_011520468.1:p.Asp285Ala
XM_011522167.1:c.854A>C	XP_011520469.1:p.Asp285Ala
XM_011522168.1:c.854A>C	XP_011520470.1:p.Asp285Ala
XM_011522169.1:c.798+1075A>C	XP_011520471.1:n.798+1075A>C
XM_011522170.1:c.371+2779A>C	XP_011520472.1:n.371+2779A>C
XM_011522171.1:c.311+2779A>C	XP_011520473.1:n.311+2779A>C
XM_011522172.1:c.311+2779A>C	XP_011520474.1:n.311+2779A>C
XM_011522173.1:c.311+2779A>C	XP_011520475.1:n.311+2779A>C
XR_931936.1:n.1304A>C
XR_931937.1:n.1247A>C
XR_931938.1:n.1304A>C
XR_931939.1:n.1248+1075A>C
XR_931940.1:n.1069+2779A>C
NM_001321135.1:c.797A>C	NP_001308064.1:p.Asp266Ala
NM_001321136.1:c.770A>C	NP_001308065.1:p.Asp257Ala
NM_001321137.1:c.992A>C	NP_001308066.1:p.Asp331Ala
NM_003978.4:c.797A>C	NP_003969.2:p.Asp266Ala
NR_135552.1:n.1150+1075A>C
XM_006720737.3:c.431A>C	XP_006720800.1:p.Asp144Ala
XM_011522163.2:c.854A>C	XP_011520465.1:p.Asp285Ala
XM_011522165.2:c.650A>C	XP_011520467.1:p.Asp217Ala
XM_011522166.2:c.854A>C	XP_011520468.1:p.Asp285Ala
XM_011522167.2:c.854A>C	XP_011520469.1:p.Asp285Ala
XM_011522168.3:c.854A>C	XP_011520470.1:p.Asp285Ala
XM_011522169.2:c.798+1075A>C	XP_011520471.1:n.798+1075A>C
XR_931936.2:n.1302A>C
XR_931937.2:n.1245A>C
XR_931938.2:n.1302A>C
XR_931939.2:n.1246+1075A>C
NM_001321135.2:c.797A>C	NP_001308064.1:p.Asp266Ala
NM_001321136.2:c.770A>C	NP_001308065.1:p.Asp257Ala
NM_003978.5:c.797A>C MANE Select	NP_003969.2:p.Asp266Ala
NR_135552.2:n.1109+1075A>C