Canonical Allele Identifier: CA393521452

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325269A>T (hg19) ; chr15:g.77032928A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032928A>T , CM000677.2:g.77032928A>T	GRCh38
NC_000015.9:g.77325269A>T , CM000677.1:g.77325269A>T	GRCh37
NC_000015.8:g.75112324A>T	NCBI36
NG_007526.1:g.42805A>T , LRG_172:g.42805A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2071A>T
ENST00000697623.1:n.2324A>T
ENST00000558012.6:c.905A>T MANE Select	ENSP00000452746.1:p.Gln302Leu
ENST00000379595.7:c.905A>T	ENSP00000368914.3:p.Gln302Leu
ENST00000557995.1:n.569A>T
ENST00000558012.5:c.905A>T	ENSP00000452746.1:p.Gln302Leu
ENST00000558870.1:c.78+534A>T
ENST00000559295.5:c.872+500A>T	ENSP00000452743.1:n.872+500A>T
ENST00000559785.5:c.1134A>T	ENSP00000452986.1:p.Thr378=
ENST00000560223.5:c.*1007A>T	ENSP00000454118.1:n.*1007A>T
NM_003978.3:c.905A>T , LRG_172t1:c.905A>T	NP_003969.2:p.Gln302Leu
XM_006720737.2:c.539A>T	XP_006720800.1:p.Gln180Leu
XM_011522163.1:c.962A>T	XP_011520465.1:p.Gln321Leu
XM_011522164.1:c.860A>T	XP_011520466.1:p.Gln287Leu
XM_011522165.1:c.758A>T	XP_011520467.1:p.Gln253Leu
XM_011522166.1:c.996A>T	XP_011520468.1:p.Thr332=
XM_011522167.1:c.895+534A>T	XP_011520469.1:n.895+534A>T
XM_011522168.1:c.962A>T	XP_011520470.1:p.Gln321Leu
XM_011522169.1:c.798+1650A>T	XP_011520471.1:n.798+1650A>T
XM_011522170.1:c.372-2580A>T	XP_011520472.1:n.372-2580A>T
XM_011522171.1:c.312-2580A>T	XP_011520473.1:n.312-2580A>T
XM_011522172.1:c.312-2580A>T	XP_011520474.1:n.312-2580A>T
XM_011522173.1:c.312-2580A>T	XP_011520475.1:n.312-2580A>T
XR_931936.1:n.1446A>T
XR_931937.1:n.1389A>T
XR_931938.1:n.1345+534A>T
XR_931939.1:n.1248+1650A>T
XR_931940.1:n.1070-2580A>T
NM_001321135.1:c.872+500A>T	NP_001308064.1:n.872+500A>T
NM_001321136.1:c.878A>T	NP_001308065.1:p.Gln293Leu
NM_001321137.1:c.1100A>T	NP_001308066.1:p.Gln367Leu
NM_003978.4:c.905A>T	NP_003969.2:p.Gln302Leu
NR_135552.1:n.1150+1650A>T
XM_006720737.3:c.539A>T	XP_006720800.1:p.Gln180Leu
XM_011522163.2:c.962A>T	XP_011520465.1:p.Gln321Leu
XM_011522165.2:c.758A>T	XP_011520467.1:p.Gln253Leu
XM_011522166.2:c.996A>T	XP_011520468.1:p.Thr332=
XM_011522167.2:c.895+534A>T	XP_011520469.1:n.895+534A>T
XM_011522168.3:c.962A>T	XP_011520470.1:p.Gln321Leu
XM_011522169.2:c.798+1650A>T	XP_011520471.1:n.798+1650A>T
XR_931936.2:n.1444A>T
XR_931937.2:n.1387A>T
XR_931938.2:n.1343+534A>T
XR_931939.2:n.1246+1650A>T
NM_001321135.2:c.872+500A>T	NP_001308064.1:n.872+500A>T
NM_001321136.2:c.878A>T	NP_001308065.1:p.Gln293Leu
NM_003978.5:c.905A>T MANE Select	NP_003969.2:p.Gln302Leu
NR_135552.2:n.1109+1650A>T