Canonical Allele Identifier: CA7675605

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.76995451G>A , CM000677.2:g.76995451G>A	GRCh38
NC_000015.9:g.77287792G>A , CM000677.1:g.77287792G>A	GRCh37
NC_000015.8:g.75074847G>A	NCBI36
NG_007526.1:g.5328G>A , LRG_172:g.5328G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003978.5:c.-123G>A MANE Select	NP_003969.2:n.-123G>A
ENST00000558012.6:c.-123G>A MANE Select	ENSP00000452746.1:n.-123G>A
NM_001321135.1:c.-123G>A	NP_001308064.1:n.-123G>A
NM_001321135.2:c.-123G>A	NP_001308064.1:n.-123G>A
NM_001321136.1:c.-369G>A	NP_001308065.1:n.-369G>A
NM_001321136.2:c.-369G>A	NP_001308065.1:n.-369G>A
NM_001321137.1:c.73G>A	NP_001308066.1:p.Ala25Thr
NM_003978.3:c.-123G>A , LRG_172t1:c.-123G>A	NP_003969.2:n.-123G>A
NM_003978.4:c.-123G>A	NP_003969.2:n.-123G>A
NR_135552.1:n.367G>A
NR_135552.2:n.326G>A
ENST00000379595.7:c.-123G>A	ENSP00000368914.3:n.-123G>A
ENST00000558012.5:c.-123G>A	ENSP00000452746.1:n.-123G>A
ENST00000558407.5:c.73G>A	ENSP00000453268.1:p.Ala25Thr
ENST00000559161.5:c.-123G>A	ENSP00000453372.1:n.-123G>A
ENST00000559750.5:c.-123G>A	ENSP00000453531.1:n.-123G>A
ENST00000559785.5:c.73G>A	ENSP00000452986.1:p.Ala25Thr
ENST00000559795.5:n.326G>A
ENST00000560223.5:c.-123G>A	ENSP00000454118.1:n.-123G>A
ENST00000560377.5:n.67G>A
ENST00000560621.5:n.90G>A
ENST00000560796.5:c.-379G>A	ENSP00000454127.1:n.-379G>A
ENST00000697622.1:n.40+245G>A
ENST00000697623.1:n.226G>A
XM_006720737.2:c.-541G>A	XP_006720800.1:n.-541G>A
XM_006720737.3:c.-541G>A	XP_006720800.1:n.-541G>A
XM_011522163.1:c.-123G>A	XP_011520465.1:n.-123G>A
XM_011522163.2:c.-123G>A	XP_011520465.1:n.-123G>A
XM_011522166.1:c.-123G>A	XP_011520468.1:n.-123G>A
XM_011522166.2:c.-123G>A	XP_011520468.1:n.-123G>A
XM_011522167.1:c.-123G>A	XP_011520469.1:n.-123G>A
XM_011522167.2:c.-123G>A	XP_011520469.1:n.-123G>A
XM_011522168.1:c.-123G>A	XP_011520470.1:n.-123G>A
XM_011522168.3:c.-123G>A	XP_011520470.1:n.-123G>A
XM_011522169.1:c.-123G>A	XP_011520471.1:n.-123G>A
XM_011522169.2:c.-123G>A	XP_011520471.1:n.-123G>A
XM_011522171.1:c.-478G>A	XP_011520473.1:n.-478G>A
XM_011522172.1:c.-530G>A	XP_011520474.1:n.-530G>A
XR_931936.1:n.328G>A
XR_931936.2:n.326G>A
XR_931937.1:n.328G>A
XR_931937.2:n.326G>A
XR_931938.1:n.328G>A
XR_931938.2:n.326G>A
XR_931939.1:n.328G>A
XR_931939.2:n.326G>A
XR_931940.1:n.328G>A