Canonical Allele Identifier: CA393521470

Gene: PSTPIP1

Linked Data

• ClinVar Variation Id: 2706058
• ClinVar RCV Id: RCV003503608
• gnomAD v4: 15-77032937-G-C
• MyVariant Identifiers: chr15:g.77325278G>C (hg19) ; chr15:g.77032937G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032937G>C , CM000677.2:g.77032937G>C	GRCh38
NC_000015.9:g.77325278G>C , CM000677.1:g.77325278G>C	GRCh37
NC_000015.8:g.75112333G>C	NCBI36
NG_007526.1:g.42814G>C , LRG_172:g.42814G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2080G>C
ENST00000697623.1:n.2333G>C
ENST00000558012.6:c.914G>C MANE Select	ENSP00000452746.1:p.Cys305Ser
ENST00000379595.7:c.914G>C	ENSP00000368914.3:p.Cys305Ser
ENST00000557995.1:n.578G>C
ENST00000558012.5:c.914G>C	ENSP00000452746.1:p.Cys305Ser
ENST00000558870.1:c.78+543G>C
ENST00000559295.5:c.872+509G>C	ENSP00000452743.1:n.872+509G>C
ENST00000559785.5:c.1143G>C	ENSP00000452986.1:p.Leu381=
ENST00000560223.5:c.*1016G>C	ENSP00000454118.1:n.*1016G>C
NM_003978.3:c.914G>C , LRG_172t1:c.914G>C	NP_003969.2:p.Cys305Ser
XM_006720737.2:c.548G>C	XP_006720800.1:p.Cys183Ser
XM_011522163.1:c.971G>C	XP_011520465.1:p.Cys324Ser
XM_011522164.1:c.869G>C	XP_011520466.1:p.Cys290Ser
XM_011522165.1:c.767G>C	XP_011520467.1:p.Cys256Ser
XM_011522166.1:c.1005G>C	XP_011520468.1:p.Leu335=
XM_011522167.1:c.895+543G>C	XP_011520469.1:n.895+543G>C
XM_011522168.1:c.971G>C	XP_011520470.1:p.Cys324Ser
XM_011522169.1:c.798+1659G>C	XP_011520471.1:n.798+1659G>C
XM_011522170.1:c.372-2571G>C	XP_011520472.1:n.372-2571G>C
XM_011522171.1:c.312-2571G>C	XP_011520473.1:n.312-2571G>C
XM_011522172.1:c.312-2571G>C	XP_011520474.1:n.312-2571G>C
XM_011522173.1:c.312-2571G>C	XP_011520475.1:n.312-2571G>C
XR_931936.1:n.1455G>C
XR_931937.1:n.1398G>C
XR_931938.1:n.1345+543G>C
XR_931939.1:n.1248+1659G>C
XR_931940.1:n.1070-2571G>C
NM_001321135.1:c.872+509G>C	NP_001308064.1:n.872+509G>C
NM_001321136.1:c.887G>C	NP_001308065.1:p.Cys296Ser
NM_001321137.1:c.1109G>C	NP_001308066.1:p.Cys370Ser
NM_003978.4:c.914G>C	NP_003969.2:p.Cys305Ser
NR_135552.1:n.1150+1659G>C
XM_006720737.3:c.548G>C	XP_006720800.1:p.Cys183Ser
XM_011522163.2:c.971G>C	XP_011520465.1:p.Cys324Ser
XM_011522165.2:c.767G>C	XP_011520467.1:p.Cys256Ser
XM_011522166.2:c.1005G>C	XP_011520468.1:p.Leu335=
XM_011522167.2:c.895+543G>C	XP_011520469.1:n.895+543G>C
XM_011522168.3:c.971G>C	XP_011520470.1:p.Cys324Ser
XM_011522169.2:c.798+1659G>C	XP_011520471.1:n.798+1659G>C
XR_931936.2:n.1453G>C
XR_931937.2:n.1396G>C
XR_931938.2:n.1343+543G>C
XR_931939.2:n.1246+1659G>C
NM_001321135.2:c.872+509G>C	NP_001308064.1:n.872+509G>C
NM_001321136.2:c.887G>C	NP_001308065.1:p.Cys296Ser
NM_003978.5:c.914G>C MANE Select	NP_003969.2:p.Cys305Ser
NR_135552.2:n.1109+1659G>C