Canonical Allele Identifier: CA393521482

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs1398444230
• gnomAD v2: 15-77325285-G-A
• gnomAD v4: 15-77032944-G-A
• MyVariant Identifiers: chr15:g.77325285G>A (hg19) ; chr15:g.77032944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032944G>A , CM000677.2:g.77032944G>A	GRCh38
NC_000015.9:g.77325285G>A , CM000677.1:g.77325285G>A	GRCh37
NC_000015.8:g.75112340G>A	NCBI36
NG_007526.1:g.42821G>A , LRG_172:g.42821G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2087G>A
ENST00000697623.1:n.2340G>A
ENST00000558012.6:c.921G>A MANE Select	ENSP00000452746.1:p.Met307Ile
ENST00000379595.7:c.921G>A	ENSP00000368914.3:p.Met307Ile
ENST00000557995.1:n.585G>A
ENST00000558012.5:c.921G>A	ENSP00000452746.1:p.Met307Ile
ENST00000558870.1:c.78+550G>A
ENST00000559295.5:c.872+516G>A	ENSP00000452743.1:n.872+516G>A
ENST00000559785.5:c.1150G>A	ENSP00000452986.1:p.Asp384Asn
ENST00000560223.5:c.*1023G>A	ENSP00000454118.1:n.*1023G>A
NM_003978.3:c.921G>A , LRG_172t1:c.921G>A	NP_003969.2:p.Met307Ile
XM_006720737.2:c.555G>A	XP_006720800.1:p.Met185Ile
XM_011522163.1:c.978G>A	XP_011520465.1:p.Met326Ile
XM_011522164.1:c.876G>A	XP_011520466.1:p.Met292Ile
XM_011522165.1:c.774G>A	XP_011520467.1:p.Met258Ile
XM_011522166.1:c.1012G>A	XP_011520468.1:p.Asp338Asn
XM_011522167.1:c.895+550G>A	XP_011520469.1:n.895+550G>A
XM_011522168.1:c.978G>A	XP_011520470.1:p.Met326Ile
XM_011522169.1:c.798+1666G>A	XP_011520471.1:n.798+1666G>A
XM_011522170.1:c.372-2564G>A	XP_011520472.1:n.372-2564G>A
XM_011522171.1:c.312-2564G>A	XP_011520473.1:n.312-2564G>A
XM_011522172.1:c.312-2564G>A	XP_011520474.1:n.312-2564G>A
XM_011522173.1:c.312-2564G>A	XP_011520475.1:n.312-2564G>A
XR_931936.1:n.1462G>A
XR_931937.1:n.1405G>A
XR_931938.1:n.1345+550G>A
XR_931939.1:n.1248+1666G>A
XR_931940.1:n.1070-2564G>A
NM_001321135.1:c.872+516G>A	NP_001308064.1:n.872+516G>A
NM_001321136.1:c.894G>A	NP_001308065.1:p.Met298Ile
NM_001321137.1:c.1116G>A	NP_001308066.1:p.Met372Ile
NM_003978.4:c.921G>A	NP_003969.2:p.Met307Ile
NR_135552.1:n.1150+1666G>A
XM_006720737.3:c.555G>A	XP_006720800.1:p.Met185Ile
XM_011522163.2:c.978G>A	XP_011520465.1:p.Met326Ile
XM_011522165.2:c.774G>A	XP_011520467.1:p.Met258Ile
XM_011522166.2:c.1012G>A	XP_011520468.1:p.Asp338Asn
XM_011522167.2:c.895+550G>A	XP_011520469.1:n.895+550G>A
XM_011522168.3:c.978G>A	XP_011520470.1:p.Met326Ile
XM_011522169.2:c.798+1666G>A	XP_011520471.1:n.798+1666G>A
XR_931936.2:n.1460G>A
XR_931937.2:n.1403G>A
XR_931938.2:n.1343+550G>A
XR_931939.2:n.1246+1666G>A
NM_001321135.2:c.872+516G>A	NP_001308064.1:n.872+516G>A
NM_001321136.2:c.894G>A	NP_001308065.1:p.Met298Ile
NM_003978.5:c.921G>A MANE Select	NP_003969.2:p.Met307Ile
NR_135552.2:n.1109+1666G>A