Canonical Allele Identifier: CA393521437

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs1245192194
• gnomAD v2: 15-77325262-G-A
• gnomAD v4: 15-77032921-G-A
• MyVariant Identifiers: chr15:g.77325262G>A (hg19) ; chr15:g.77032921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032921G>A , CM000677.2:g.77032921G>A	GRCh38
NC_000015.9:g.77325262G>A , CM000677.1:g.77325262G>A	GRCh37
NC_000015.8:g.75112317G>A	NCBI36
NG_007526.1:g.42798G>A , LRG_172:g.42798G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2064G>A
ENST00000697623.1:n.2317G>A
ENST00000558012.6:c.898G>A MANE Select	ENSP00000452746.1:p.Gly300Ser
ENST00000379595.7:c.898G>A	ENSP00000368914.3:p.Gly300Ser
ENST00000557995.1:n.562G>A
ENST00000558012.5:c.898G>A	ENSP00000452746.1:p.Gly300Ser
ENST00000558870.1:c.78+527G>A
ENST00000559295.5:c.872+493G>A	ENSP00000452743.1:n.872+493G>A
ENST00000559785.5:c.1127G>A	ENSP00000452986.1:p.Trp376Ter
ENST00000560223.5:c.*1000G>A	ENSP00000454118.1:n.*1000G>A
NM_003978.3:c.898G>A , LRG_172t1:c.898G>A	NP_003969.2:p.Gly300Ser
XM_006720737.2:c.532G>A	XP_006720800.1:p.Gly178Ser
XM_011522163.1:c.955G>A	XP_011520465.1:p.Gly319Ser
XM_011522164.1:c.853G>A	XP_011520466.1:p.Gly285Ser
XM_011522165.1:c.751G>A	XP_011520467.1:p.Gly251Ser
XM_011522166.1:c.989G>A	XP_011520468.1:p.Trp330Ter
XM_011522167.1:c.895+527G>A	XP_011520469.1:n.895+527G>A
XM_011522168.1:c.955G>A	XP_011520470.1:p.Gly319Ser
XM_011522169.1:c.798+1643G>A	XP_011520471.1:n.798+1643G>A
XM_011522170.1:c.372-2587G>A	XP_011520472.1:n.372-2587G>A
XM_011522171.1:c.312-2587G>A	XP_011520473.1:n.312-2587G>A
XM_011522172.1:c.312-2587G>A	XP_011520474.1:n.312-2587G>A
XM_011522173.1:c.312-2587G>A	XP_011520475.1:n.312-2587G>A
XR_931936.1:n.1439G>A
XR_931937.1:n.1382G>A
XR_931938.1:n.1345+527G>A
XR_931939.1:n.1248+1643G>A
XR_931940.1:n.1070-2587G>A
NM_001321135.1:c.872+493G>A	NP_001308064.1:n.872+493G>A
NM_001321136.1:c.871G>A	NP_001308065.1:p.Gly291Ser
NM_001321137.1:c.1093G>A	NP_001308066.1:p.Gly365Ser
NM_003978.4:c.898G>A	NP_003969.2:p.Gly300Ser
NR_135552.1:n.1150+1643G>A
XM_006720737.3:c.532G>A	XP_006720800.1:p.Gly178Ser
XM_011522163.2:c.955G>A	XP_011520465.1:p.Gly319Ser
XM_011522165.2:c.751G>A	XP_011520467.1:p.Gly251Ser
XM_011522166.2:c.989G>A	XP_011520468.1:p.Trp330Ter
XM_011522167.2:c.895+527G>A	XP_011520469.1:n.895+527G>A
XM_011522168.3:c.955G>A	XP_011520470.1:p.Gly319Ser
XM_011522169.2:c.798+1643G>A	XP_011520471.1:n.798+1643G>A
XR_931936.2:n.1437G>A
XR_931937.2:n.1380G>A
XR_931938.2:n.1343+527G>A
XR_931939.2:n.1246+1643G>A
NM_001321135.2:c.872+493G>A	NP_001308064.1:n.872+493G>A
NM_001321136.2:c.871G>A	NP_001308065.1:p.Gly291Ser
NM_003978.5:c.898G>A MANE Select	NP_003969.2:p.Gly300Ser
NR_135552.2:n.1109+1643G>A