Canonical Allele Identifier: CA393521502

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325293G>T (hg19) ; chr15:g.77032952G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032952G>T , CM000677.2:g.77032952G>T	GRCh38
NC_000015.9:g.77325293G>T , CM000677.1:g.77325293G>T	GRCh37
NC_000015.8:g.75112348G>T	NCBI36
NG_007526.1:g.42829G>T , LRG_172:g.42829G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2095G>T
ENST00000697623.1:n.2348G>T
ENST00000558012.6:c.929G>T MANE Select	ENSP00000452746.1:p.Arg310Met
ENST00000379595.7:c.929G>T	ENSP00000368914.3:p.Arg310Met
ENST00000557995.1:n.593G>T
ENST00000558012.5:c.929G>T	ENSP00000452746.1:p.Arg310Met
ENST00000558870.1:c.78+558G>T
ENST00000559295.5:c.872+524G>T	ENSP00000452743.1:n.872+524G>T
ENST00000559785.5:c.1158G>T	ENSP00000452986.1:p.Glu386Asp
ENST00000560223.5:c.*1031G>T	ENSP00000454118.1:n.*1031G>T
NM_003978.3:c.929G>T , LRG_172t1:c.929G>T	NP_003969.2:p.Arg310Met
XM_006720737.2:c.563G>T	XP_006720800.1:p.Arg188Met
XM_011522163.1:c.986G>T	XP_011520465.1:p.Arg329Met
XM_011522164.1:c.884G>T	XP_011520466.1:p.Arg295Met
XM_011522165.1:c.782G>T	XP_011520467.1:p.Arg261Met
XM_011522166.1:c.1020G>T	XP_011520468.1:p.Glu340Asp
XM_011522167.1:c.895+558G>T	XP_011520469.1:n.895+558G>T
XM_011522168.1:c.986G>T	XP_011520470.1:p.Arg329Met
XM_011522169.1:c.798+1674G>T	XP_011520471.1:n.798+1674G>T
XM_011522170.1:c.372-2556G>T	XP_011520472.1:n.372-2556G>T
XM_011522171.1:c.312-2556G>T	XP_011520473.1:n.312-2556G>T
XM_011522172.1:c.312-2556G>T	XP_011520474.1:n.312-2556G>T
XM_011522173.1:c.312-2556G>T	XP_011520475.1:n.312-2556G>T
XR_931936.1:n.1470G>T
XR_931937.1:n.1413G>T
XR_931938.1:n.1345+558G>T
XR_931939.1:n.1248+1674G>T
XR_931940.1:n.1070-2556G>T
NM_001321135.1:c.872+524G>T	NP_001308064.1:n.872+524G>T
NM_001321136.1:c.902G>T	NP_001308065.1:p.Arg301Met
NM_001321137.1:c.1124G>T	NP_001308066.1:p.Arg375Met
NM_003978.4:c.929G>T	NP_003969.2:p.Arg310Met
NR_135552.1:n.1150+1674G>T
XM_006720737.3:c.563G>T	XP_006720800.1:p.Arg188Met
XM_011522163.2:c.986G>T	XP_011520465.1:p.Arg329Met
XM_011522165.2:c.782G>T	XP_011520467.1:p.Arg261Met
XM_011522166.2:c.1020G>T	XP_011520468.1:p.Glu340Asp
XM_011522167.2:c.895+558G>T	XP_011520469.1:n.895+558G>T
XM_011522168.3:c.986G>T	XP_011520470.1:p.Arg329Met
XM_011522169.2:c.798+1674G>T	XP_011520471.1:n.798+1674G>T
XR_931936.2:n.1468G>T
XR_931937.2:n.1411G>T
XR_931938.2:n.1343+558G>T
XR_931939.2:n.1246+1674G>T
NM_001321135.2:c.872+524G>T	NP_001308064.1:n.872+524G>T
NM_001321136.2:c.902G>T	NP_001308065.1:p.Arg301Met
NM_003978.5:c.929G>T MANE Select	NP_003969.2:p.Arg310Met
NR_135552.2:n.1109+1674G>T