Canonical Allele Identifier: CA393521464

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032934-C-T
• MyVariant Identifiers: chr15:g.77325275C>T (hg19) ; chr15:g.77032934C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032934C>T , CM000677.2:g.77032934C>T	GRCh38
NC_000015.9:g.77325275C>T , CM000677.1:g.77325275C>T	GRCh37
NC_000015.8:g.75112330C>T	NCBI36
NG_007526.1:g.42811C>T , LRG_172:g.42811C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000697622.1:n.2077C>T
ENST00000697623.1:n.2330C>T
ENST00000558012.6:c.911C>T MANE Select	ENSP00000452746.1:p.Ser304Phe
ENST00000379595.7:c.911C>T	ENSP00000368914.3:p.Ser304Phe
ENST00000557995.1:n.575C>T
ENST00000558012.5:c.911C>T	ENSP00000452746.1:p.Ser304Phe
ENST00000558870.1:c.78+540C>T
ENST00000559295.5:c.872+506C>T	ENSP00000452743.1:n.872+506C>T
ENST00000559785.5:c.1140C>T	ENSP00000452986.1:p.Val380=
ENST00000560223.5:c.*1013C>T	ENSP00000454118.1:n.*1013C>T
NM_003978.3:c.911C>T , LRG_172t1:c.911C>T	NP_003969.2:p.Ser304Phe
XM_006720737.2:c.545C>T	XP_006720800.1:p.Ser182Phe
XM_011522163.1:c.968C>T	XP_011520465.1:p.Ser323Phe
XM_011522164.1:c.866C>T	XP_011520466.1:p.Ser289Phe
XM_011522165.1:c.764C>T	XP_011520467.1:p.Ser255Phe
XM_011522166.1:c.1002C>T	XP_011520468.1:p.Val334=
XM_011522167.1:c.895+540C>T	XP_011520469.1:n.895+540C>T
XM_011522168.1:c.968C>T	XP_011520470.1:p.Ser323Phe
XM_011522169.1:c.798+1656C>T	XP_011520471.1:n.798+1656C>T
XM_011522170.1:c.372-2574C>T	XP_011520472.1:n.372-2574C>T
XM_011522171.1:c.312-2574C>T	XP_011520473.1:n.312-2574C>T
XM_011522172.1:c.312-2574C>T	XP_011520474.1:n.312-2574C>T
XM_011522173.1:c.312-2574C>T	XP_011520475.1:n.312-2574C>T
XR_931936.1:n.1452C>T
XR_931937.1:n.1395C>T
XR_931938.1:n.1345+540C>T
XR_931939.1:n.1248+1656C>T
XR_931940.1:n.1070-2574C>T
NM_001321135.1:c.872+506C>T	NP_001308064.1:n.872+506C>T
NM_001321136.1:c.884C>T	NP_001308065.1:p.Ser295Phe
NM_001321137.1:c.1106C>T	NP_001308066.1:p.Ser369Phe
NM_003978.4:c.911C>T	NP_003969.2:p.Ser304Phe
NR_135552.1:n.1150+1656C>T
XM_006720737.3:c.545C>T	XP_006720800.1:p.Ser182Phe
XM_011522163.2:c.968C>T	XP_011520465.1:p.Ser323Phe
XM_011522165.2:c.764C>T	XP_011520467.1:p.Ser255Phe
XM_011522166.2:c.1002C>T	XP_011520468.1:p.Val334=
XM_011522167.2:c.895+540C>T	XP_011520469.1:n.895+540C>T
XM_011522168.3:c.968C>T	XP_011520470.1:p.Ser323Phe
XM_011522169.2:c.798+1656C>T	XP_011520471.1:n.798+1656C>T
XR_931936.2:n.1450C>T
XR_931937.2:n.1393C>T
XR_931938.2:n.1343+540C>T
XR_931939.2:n.1246+1656C>T
NM_001321135.2:c.872+506C>T	NP_001308064.1:n.872+506C>T
NM_001321136.2:c.884C>T	NP_001308065.1:p.Ser295Phe
NM_003978.5:c.911C>T MANE Select	NP_003969.2:p.Ser304Phe
NR_135552.2:n.1109+1656C>T