Canonical Allele Identifier: CA393521327

Gene: PSTPIP1

Linked Data

• gnomAD v4: 15-77032868-T-C
• MyVariant Identifiers: chr15:g.77325209T>C (hg19) ; chr15:g.77032868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032868T>C , CM000677.2:g.77032868T>C	GRCh38
NC_000015.9:g.77325209T>C , CM000677.1:g.77325209T>C	GRCh37
NC_000015.8:g.75112264T>C	NCBI36
NG_007526.1:g.42745T>C , LRG_172:g.42745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2011T>C
ENST00000697623.1:n.2264T>C
ENST00000558012.6:c.845T>C MANE Select	ENSP00000452746.1:p.Val282Ala
ENST00000379595.7:c.845T>C	ENSP00000368914.3:p.Val282Ala
ENST00000557995.1:n.509T>C
ENST00000558012.5:c.845T>C	ENSP00000452746.1:p.Val282Ala
ENST00000558870.1:c.78+474T>C
ENST00000559295.5:c.872+440T>C	ENSP00000452743.1:n.872+440T>C
ENST00000559785.5:c.1074T>C	ENSP00000452986.1:p.Gly358=
ENST00000560223.5:c.*947T>C	ENSP00000454118.1:n.*947T>C
NM_003978.3:c.845T>C , LRG_172t1:c.845T>C	NP_003969.2:p.Val282Ala
XM_006720737.2:c.479T>C	XP_006720800.1:p.Val160Ala
XM_011522163.1:c.902T>C	XP_011520465.1:p.Val301Ala
XM_011522164.1:c.800T>C	XP_011520466.1:p.Val267Ala
XM_011522165.1:c.698T>C	XP_011520467.1:p.Val233Ala
XM_011522166.1:c.936T>C	XP_011520468.1:p.Gly312=
XM_011522167.1:c.895+474T>C	XP_011520469.1:n.895+474T>C
XM_011522168.1:c.902T>C	XP_011520470.1:p.Val301Ala
XM_011522169.1:c.798+1590T>C	XP_011520471.1:n.798+1590T>C
XM_011522170.1:c.372-2640T>C	XP_011520472.1:n.372-2640T>C
XM_011522171.1:c.312-2640T>C	XP_011520473.1:n.312-2640T>C
XM_011522172.1:c.312-2640T>C	XP_011520474.1:n.312-2640T>C
XM_011522173.1:c.312-2640T>C	XP_011520475.1:n.312-2640T>C
XR_931936.1:n.1386T>C
XR_931937.1:n.1329T>C
XR_931938.1:n.1345+474T>C
XR_931939.1:n.1248+1590T>C
XR_931940.1:n.1070-2640T>C
NM_001321135.1:c.872+440T>C	NP_001308064.1:n.872+440T>C
NM_001321136.1:c.818T>C	NP_001308065.1:p.Val273Ala
NM_001321137.1:c.1040T>C	NP_001308066.1:p.Val347Ala
NM_003978.4:c.845T>C	NP_003969.2:p.Val282Ala
NR_135552.1:n.1150+1590T>C
XM_006720737.3:c.479T>C	XP_006720800.1:p.Val160Ala
XM_011522163.2:c.902T>C	XP_011520465.1:p.Val301Ala
XM_011522165.2:c.698T>C	XP_011520467.1:p.Val233Ala
XM_011522166.2:c.936T>C	XP_011520468.1:p.Gly312=
XM_011522167.2:c.895+474T>C	XP_011520469.1:n.895+474T>C
XM_011522168.3:c.902T>C	XP_011520470.1:p.Val301Ala
XM_011522169.2:c.798+1590T>C	XP_011520471.1:n.798+1590T>C
XR_931936.2:n.1384T>C
XR_931937.2:n.1327T>C
XR_931938.2:n.1343+474T>C
XR_931939.2:n.1246+1590T>C
NM_001321135.2:c.872+440T>C	NP_001308064.1:n.872+440T>C
NM_001321136.2:c.818T>C	NP_001308065.1:p.Val273Ala
NM_003978.5:c.845T>C MANE Select	NP_003969.2:p.Val282Ala
NR_135552.2:n.1109+1590T>C