Canonical Allele Identifier: CA273760775

Gene: PSTPIP1

Linked Data

• dbSNP Id: rs962901045
• MyVariant Identifiers: chr15:g.77325287_77325288insA (hg19) ; chr15:g.77032946_77032947insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032949dup , CM000677.2:g.77032949dup	GRCh38
NC_000015.9:g.77325290dup , CM000677.1:g.77325290dup	GRCh37
NC_000015.8:g.75112345dup	NCBI36
NG_007526.1:g.42826dup , LRG_172:g.42826dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2092dup
ENST00000697623.1:n.2345dup
ENST00000558012.6:c.926dup MANE Select	ENSP00000452746.1:p.Arg310GlufsTer?
ENST00000379595.7:c.926dup	ENSP00000368914.3:p.Arg310GlufsTer20
ENST00000557995.1:n.590dup
ENST00000558012.5:c.926dup	ENSP00000452746.1:p.Arg310GlufsTer?
ENST00000558870.1:c.78+555dup
ENST00000559295.5:c.872+521dup	ENSP00000452743.1:n.872+521dup
ENST00000559785.5:c.1155dup	ENSP00000452986.1:p.Glu386ArgfsTer26
ENST00000560223.5:c.*1028dup	ENSP00000454118.1:n.*1028dup
NM_003978.3:c.926dup , LRG_172t1:c.926dup	NP_003969.2:p.Arg310GlufsTer?
XM_006720737.2:c.560dup	XP_006720800.1:p.Arg188GlufsTer?
XM_011522163.1:c.983dup	XP_011520465.1:p.Arg329GlufsTer20
XM_011522164.1:c.881dup	XP_011520466.1:p.Arg295GlufsTer?
XM_011522165.1:c.779dup	XP_011520467.1:p.Arg261GlufsTer?
XM_011522166.1:c.1017dup	XP_011520468.1:p.Glu340ArgfsTer23
XM_011522167.1:c.895+555dup	XP_011520469.1:n.895+555dup
XM_011522168.1:c.983dup	XP_011520470.1:p.Arg329GlufsTer?
XM_011522169.1:c.798+1671dup	XP_011520471.1:n.798+1671dup
XM_011522170.1:c.372-2559dup	XP_011520472.1:n.372-2559dup
XM_011522171.1:c.312-2559dup	XP_011520473.1:n.312-2559dup
XM_011522172.1:c.312-2559dup	XP_011520474.1:n.312-2559dup
XM_011522173.1:c.312-2559dup	XP_011520475.1:n.312-2559dup
XR_931936.1:n.1467dup
XR_931937.1:n.1410dup
XR_931938.1:n.1345+555dup
XR_931939.1:n.1248+1671dup
XR_931940.1:n.1070-2559dup
NM_001321135.1:c.872+521dup	NP_001308064.1:n.872+521dup
NM_001321136.1:c.899dup	NP_001308065.1:p.Arg301GlufsTer?
NM_001321137.1:c.1121dup	NP_001308066.1:p.Arg375GlufsTer?
NM_003978.4:c.926dup	NP_003969.2:p.Arg310GlufsTer?
NR_135552.1:n.1150+1671dup
XM_006720737.3:c.560dup	XP_006720800.1:p.Arg188GlufsTer?
XM_011522163.2:c.983dup	XP_011520465.1:p.Arg329GlufsTer20
XM_011522165.2:c.779dup	XP_011520467.1:p.Arg261GlufsTer?
XM_011522166.2:c.1017dup	XP_011520468.1:p.Glu340ArgfsTer23
XM_011522167.2:c.895+555dup	XP_011520469.1:n.895+555dup
XM_011522168.3:c.983dup	XP_011520470.1:p.Arg329GlufsTer?
XM_011522169.2:c.798+1671dup	XP_011520471.1:n.798+1671dup
XR_931936.2:n.1465dup
XR_931937.2:n.1408dup
XR_931938.2:n.1343+555dup
XR_931939.2:n.1246+1671dup
NM_001321135.2:c.872+521dup	NP_001308064.1:n.872+521dup
NM_001321136.2:c.899dup	NP_001308065.1:p.Arg301GlufsTer?
NM_003978.5:c.926dup MANE Select	NP_003969.2:p.Arg310GlufsTer?
NR_135552.2:n.1109+1671dup