Canonical Allele Identifier: CA7675729

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77018503C>T , CM000677.2:g.77018503C>T	GRCh38
NC_000015.9:g.77310844C>T , CM000677.1:g.77310844C>T	GRCh37
NC_000015.8:g.75097899C>T	NCBI36
NG_007526.1:g.28380C>T , LRG_172:g.28380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.41-9355C>T
ENST00000697623.1:n.532C>T
ENST00000558012.6:c.184C>T MANE Select	ENSP00000452746.1:p.Arg62Trp
ENST00000379595.7:c.184C>T	ENSP00000368914.3:p.Arg62Trp
ENST00000558012.5:c.184C>T	ENSP00000452746.1:p.Arg62Trp
ENST00000558407.5:c.379C>T	ENSP00000453268.1:p.Arg127Trp
ENST00000559161.5:c.184C>T	ENSP00000453372.1:p.Arg62Trp
ENST00000559295.5:c.184C>T	ENSP00000452743.1:p.Arg62Trp
ENST00000559750.5:c.184C>T	ENSP00000453531.1:p.Arg62Trp
ENST00000559785.5:c.379C>T	ENSP00000452986.1:p.Arg127Trp
ENST00000559795.5:n.632C>T
ENST00000559856.1:c.46C>T	ENSP00000453382.1:p.Arg16Trp
ENST00000559859.5:c.157C>T	ENSP00000453218.1:p.Arg53Trp
ENST00000560223.5:c.*286C>T	ENSP00000454118.1:n.*286C>T
ENST00000560377.5:n.373C>T
ENST00000560621.5:n.396C>T
ENST00000560796.5:c.82C>T	ENSP00000454127.1:p.Arg28Trp
NM_003978.3:c.184C>T , LRG_172t1:c.184C>T	NP_003969.2:p.Arg62Trp
XM_006720737.2:c.-235C>T	XP_006720800.1:n.-235C>T
XM_011522163.1:c.184C>T	XP_011520465.1:p.Arg62Trp
XM_011522164.1:c.82C>T	XP_011520466.1:p.Arg28Trp
XM_011522165.1:c.-186C>T	XP_011520467.1:n.-186C>T
XM_011522166.1:c.184C>T	XP_011520468.1:p.Arg62Trp
XM_011522167.1:c.184C>T	XP_011520469.1:p.Arg62Trp
XM_011522168.1:c.184C>T	XP_011520470.1:p.Arg62Trp
XM_011522169.1:c.184C>T	XP_011520471.1:p.Arg62Trp
XM_011522171.1:c.-172C>T	XP_011520473.1:n.-172C>T
XM_011522172.1:c.-224C>T	XP_011520474.1:n.-224C>T
XR_931936.1:n.634C>T
XR_931937.1:n.634C>T
XR_931938.1:n.634C>T
XR_931939.1:n.634C>T
XR_931940.1:n.634C>T
NM_001321135.1:c.184C>T	NP_001308064.1:p.Arg62Trp
NM_001321136.1:c.157C>T	NP_001308065.1:p.Arg53Trp
NM_001321137.1:c.379C>T	NP_001308066.1:p.Arg127Trp
NM_003978.4:c.184C>T	NP_003969.2:p.Arg62Trp
NR_135552.1:n.673C>T
XM_006720737.3:c.-235C>T	XP_006720800.1:n.-235C>T
XM_011522163.2:c.184C>T	XP_011520465.1:p.Arg62Trp
XM_011522166.2:c.184C>T	XP_011520468.1:p.Arg62Trp
XM_011522167.2:c.184C>T	XP_011520469.1:p.Arg62Trp
XM_011522168.3:c.184C>T	XP_011520470.1:p.Arg62Trp
XM_011522169.2:c.184C>T	XP_011520471.1:p.Arg62Trp
XR_931936.2:n.632C>T
XR_931937.2:n.632C>T
XR_931938.2:n.632C>T
XR_931939.2:n.632C>T
NM_001321135.2:c.184C>T	NP_001308064.1:p.Arg62Trp
NM_001321136.2:c.157C>T	NP_001308065.1:p.Arg53Trp
NM_003978.5:c.184C>T MANE Select	NP_003969.2:p.Arg62Trp
NR_135552.2:n.632C>T