Canonical Allele Identifier: CA7675711

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77018295G>C , CM000677.2:g.77018295G>C	GRCh38
NC_000015.9:g.77310636G>C , CM000677.1:g.77310636G>C	GRCh37
NC_000015.8:g.75097691G>C	NCBI36
NG_007526.1:g.28172G>C , LRG_172:g.28172G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.41-9563G>C
ENST00000697623.1:n.485+47G>C
ENST00000558012.6:c.137+47G>C MANE Select	ENSP00000452746.1:n.137+47G>C
ENST00000379595.7:c.137+47G>C	ENSP00000368914.3:n.137+47G>C
ENST00000558012.5:c.137+47G>C	ENSP00000452746.1:n.137+47G>C
ENST00000558407.5:c.332+47G>C	ENSP00000453268.1:n.332+47G>C
ENST00000559161.5:c.137+47G>C	ENSP00000453372.1:n.137+47G>C
ENST00000559295.5:c.137+47G>C	ENSP00000452743.1:n.137+47G>C
ENST00000559750.5:c.137+47G>C	ENSP00000453531.1:n.137+47G>C
ENST00000559785.5:c.332+47G>C	ENSP00000452986.1:n.332+47G>C
ENST00000559795.5:n.585+47G>C
ENST00000559859.5:c.110+47G>C	ENSP00000453218.1:n.110+47G>C
ENST00000560223.5:c.*239+47G>C	ENSP00000454118.1:n.*239+47G>C
ENST00000560377.5:n.326+47G>C
ENST00000560621.5:n.349+47G>C
ENST00000560796.5:c.35+47G>C	ENSP00000454127.1:n.35+47G>C
NM_003978.3:c.137+47G>C , LRG_172t1:c.137+47G>C	NP_003969.2:n.137+47G>C
XM_006720737.2:c.-282+47G>C	XP_006720800.1:n.-282+47G>C
XM_011522163.1:c.137+47G>C	XP_011520465.1:n.137+47G>C
XM_011522164.1:c.35+47G>C	XP_011520466.1:n.35+47G>C
XM_011522166.1:c.137+47G>C	XP_011520468.1:n.137+47G>C
XM_011522167.1:c.137+47G>C	XP_011520469.1:n.137+47G>C
XM_011522168.1:c.137+47G>C	XP_011520470.1:n.137+47G>C
XM_011522169.1:c.137+47G>C	XP_011520471.1:n.137+47G>C
XM_011522171.1:c.-219+47G>C	XP_011520473.1:n.-219+47G>C
XM_011522172.1:c.-271+47G>C	XP_011520474.1:n.-271+47G>C
XR_931936.1:n.587+47G>C
XR_931937.1:n.587+47G>C
XR_931938.1:n.587+47G>C
XR_931939.1:n.587+47G>C
XR_931940.1:n.587+47G>C
NM_001321135.1:c.137+47G>C	NP_001308064.1:n.137+47G>C
NM_001321136.1:c.110+47G>C	NP_001308065.1:n.110+47G>C
NM_001321137.1:c.332+47G>C	NP_001308066.1:n.332+47G>C
NM_003978.4:c.137+47G>C	NP_003969.2:n.137+47G>C
NR_135552.1:n.626+47G>C
XM_006720737.3:c.-282+47G>C	XP_006720800.1:n.-282+47G>C
XM_011522163.2:c.137+47G>C	XP_011520465.1:n.137+47G>C
XM_011522166.2:c.137+47G>C	XP_011520468.1:n.137+47G>C
XM_011522167.2:c.137+47G>C	XP_011520469.1:n.137+47G>C
XM_011522168.3:c.137+47G>C	XP_011520470.1:n.137+47G>C
XM_011522169.2:c.137+47G>C	XP_011520471.1:n.137+47G>C
XR_931936.2:n.585+47G>C
XR_931937.2:n.585+47G>C
XR_931938.2:n.585+47G>C
XR_931939.2:n.585+47G>C
NM_001321135.2:c.137+47G>C	NP_001308064.1:n.137+47G>C
NM_001321136.2:c.110+47G>C	NP_001308065.1:n.110+47G>C
NM_003978.5:c.137+47G>C MANE Select	NP_003969.2:n.137+47G>C
NR_135552.2:n.585+47G>C