Canonical Allele Identifier: CA393521074

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs1178003366
• gnomAD v3: 15-77032316-C-A
• gnomAD v4: 15-77032316-C-A
• MyVariant Identifiers: chr15:g.77324657C>A (hg19) ; chr15:g.77032316C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032316C>A , CM000677.2:g.77032316C>A	GRCh38
NC_000015.9:g.77324657C>A , CM000677.1:g.77324657C>A	GRCh37
NC_000015.8:g.75111712C>A	NCBI36
NG_007526.1:g.42193C>A , LRG_172:g.42193C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.1459C>A
ENST00000697623.1:n.2179C>A
ENST00000558012.6:c.760C>A MANE Select	ENSP00000452746.1:p.Leu254Met
ENST00000379595.7:c.760C>A	ENSP00000368914.3:p.Leu254Met
ENST00000557995.1:n.424C>A
ENST00000558012.5:c.760C>A	ENSP00000452746.1:p.Leu254Met
ENST00000559295.5:c.760C>A	ENSP00000452743.1:p.Leu254Met
ENST00000559785.5:c.955C>A	ENSP00000452986.1:p.Leu319Met
ENST00000559856.1:c.679C>A	ENSP00000453382.1:p.Leu227Met
ENST00000560223.5:c.*862C>A	ENSP00000454118.1:n.*862C>A
ENST00000560377.5:n.1001C>A
NM_003978.3:c.760C>A , LRG_172t1:c.760C>A	NP_003969.2:p.Leu254Met
XM_006720737.2:c.394C>A	XP_006720800.1:p.Leu132Met
XM_011522163.1:c.817C>A	XP_011520465.1:p.Leu273Met
XM_011522164.1:c.715C>A	XP_011520466.1:p.Leu239Met
XM_011522165.1:c.613C>A	XP_011520467.1:p.Leu205Met
XM_011522166.1:c.817C>A	XP_011520468.1:p.Leu273Met
XM_011522167.1:c.817C>A	XP_011520469.1:p.Leu273Met
XM_011522168.1:c.817C>A	XP_011520470.1:p.Leu273Met
XM_011522169.1:c.798+1038C>A	XP_011520471.1:n.798+1038C>A
XM_011522170.1:c.371+2742C>A	XP_011520472.1:n.371+2742C>A
XM_011522171.1:c.311+2742C>A	XP_011520473.1:n.311+2742C>A
XM_011522172.1:c.311+2742C>A	XP_011520474.1:n.311+2742C>A
XM_011522173.1:c.311+2742C>A	XP_011520475.1:n.311+2742C>A
XR_931936.1:n.1267C>A
XR_931937.1:n.1210C>A
XR_931938.1:n.1267C>A
XR_931939.1:n.1248+1038C>A
XR_931940.1:n.1069+2742C>A
NM_001321135.1:c.760C>A	NP_001308064.1:p.Leu254Met
NM_001321136.1:c.733C>A	NP_001308065.1:p.Leu245Met
NM_001321137.1:c.955C>A	NP_001308066.1:p.Leu319Met
NM_003978.4:c.760C>A	NP_003969.2:p.Leu254Met
NR_135552.1:n.1150+1038C>A
XM_006720737.3:c.394C>A	XP_006720800.1:p.Leu132Met
XM_011522163.2:c.817C>A	XP_011520465.1:p.Leu273Met
XM_011522165.2:c.613C>A	XP_011520467.1:p.Leu205Met
XM_011522166.2:c.817C>A	XP_011520468.1:p.Leu273Met
XM_011522167.2:c.817C>A	XP_011520469.1:p.Leu273Met
XM_011522168.3:c.817C>A	XP_011520470.1:p.Leu273Met
XM_011522169.2:c.798+1038C>A	XP_011520471.1:n.798+1038C>A
XR_931936.2:n.1265C>A
XR_931937.2:n.1208C>A
XR_931938.2:n.1265C>A
XR_931939.2:n.1246+1038C>A
NM_001321135.2:c.760C>A	NP_001308064.1:p.Leu254Met
NM_001321136.2:c.733C>A	NP_001308065.1:p.Leu245Met
NM_003978.5:c.760C>A MANE Select	NP_003969.2:p.Leu254Met
NR_135552.2:n.1109+1038C>A