Canonical Allele Identifier: CA393521395

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325241A>T (hg19) ; chr15:g.77032900A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032900A>T , CM000677.2:g.77032900A>T	GRCh38
NC_000015.9:g.77325241A>T , CM000677.1:g.77325241A>T	GRCh37
NC_000015.8:g.75112296A>T	NCBI36
NG_007526.1:g.42777A>T , LRG_172:g.42777A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2043A>T
ENST00000697623.1:n.2296A>T
ENST00000558012.6:c.877A>T MANE Select	ENSP00000452746.1:p.Thr293Ser
ENST00000379595.7:c.877A>T	ENSP00000368914.3:p.Thr293Ser
ENST00000557995.1:n.541A>T
ENST00000558012.5:c.877A>T	ENSP00000452746.1:p.Thr293Ser
ENST00000558870.1:c.78+506A>T
ENST00000559295.5:c.872+472A>T	ENSP00000452743.1:n.872+472A>T
ENST00000559785.5:c.1106A>T	ENSP00000452986.1:p.His369Leu
ENST00000560223.5:c.*979A>T	ENSP00000454118.1:n.*979A>T
NM_003978.3:c.877A>T , LRG_172t1:c.877A>T	NP_003969.2:p.Thr293Ser
XM_006720737.2:c.511A>T	XP_006720800.1:p.Thr171Ser
XM_011522163.1:c.934A>T	XP_011520465.1:p.Thr312Ser
XM_011522164.1:c.832A>T	XP_011520466.1:p.Thr278Ser
XM_011522165.1:c.730A>T	XP_011520467.1:p.Thr244Ser
XM_011522166.1:c.968A>T	XP_011520468.1:p.His323Leu
XM_011522167.1:c.895+506A>T	XP_011520469.1:n.895+506A>T
XM_011522168.1:c.934A>T	XP_011520470.1:p.Thr312Ser
XM_011522169.1:c.798+1622A>T	XP_011520471.1:n.798+1622A>T
XM_011522170.1:c.372-2608A>T	XP_011520472.1:n.372-2608A>T
XM_011522171.1:c.312-2608A>T	XP_011520473.1:n.312-2608A>T
XM_011522172.1:c.312-2608A>T	XP_011520474.1:n.312-2608A>T
XM_011522173.1:c.312-2608A>T	XP_011520475.1:n.312-2608A>T
XR_931936.1:n.1418A>T
XR_931937.1:n.1361A>T
XR_931938.1:n.1345+506A>T
XR_931939.1:n.1248+1622A>T
XR_931940.1:n.1070-2608A>T
NM_001321135.1:c.872+472A>T	NP_001308064.1:n.872+472A>T
NM_001321136.1:c.850A>T	NP_001308065.1:p.Thr284Ser
NM_001321137.1:c.1072A>T	NP_001308066.1:p.Thr358Ser
NM_003978.4:c.877A>T	NP_003969.2:p.Thr293Ser
NR_135552.1:n.1150+1622A>T
XM_006720737.3:c.511A>T	XP_006720800.1:p.Thr171Ser
XM_011522163.2:c.934A>T	XP_011520465.1:p.Thr312Ser
XM_011522165.2:c.730A>T	XP_011520467.1:p.Thr244Ser
XM_011522166.2:c.968A>T	XP_011520468.1:p.His323Leu
XM_011522167.2:c.895+506A>T	XP_011520469.1:n.895+506A>T
XM_011522168.3:c.934A>T	XP_011520470.1:p.Thr312Ser
XM_011522169.2:c.798+1622A>T	XP_011520471.1:n.798+1622A>T
XR_931936.2:n.1416A>T
XR_931937.2:n.1359A>T
XR_931938.2:n.1343+506A>T
XR_931939.2:n.1246+1622A>T
NM_001321135.2:c.872+472A>T	NP_001308064.1:n.872+472A>T
NM_001321136.2:c.850A>T	NP_001308065.1:p.Thr284Ser
NM_003978.5:c.877A>T MANE Select	NP_003969.2:p.Thr293Ser
NR_135552.2:n.1109+1622A>T