Canonical Allele Identifier: CA393520182

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77029555G>C , CM000677.2:g.77029555G>C	GRCh38
NC_000015.9:g.77321896G>C , CM000677.1:g.77321896G>C	GRCh37
NC_000015.8:g.75108951G>C	NCBI36
NG_007526.1:g.39432G>C , LRG_172:g.39432G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.223G>C
ENST00000697623.1:n.943G>C
ENST00000558012.6:c.543G>C MANE Select	ENSP00000452746.1:p.Lys181Asn
ENST00000379595.7:c.543G>C	ENSP00000368914.3:p.Lys181Asn
ENST00000557995.1:n.207G>C
ENST00000558012.5:c.543G>C	ENSP00000452746.1:p.Lys181Asn
ENST00000559161.5:c.534G>C	ENSP00000453372.1:p.Lys178Asn
ENST00000559295.5:c.543G>C	ENSP00000452743.1:p.Lys181Asn
ENST00000559750.5:c.*184G>C	ENSP00000453531.1:n.*184G>C
ENST00000559785.5:c.738G>C	ENSP00000452986.1:p.Lys246Asn
ENST00000559856.1:c.462G>C	ENSP00000453382.1:p.Lys154Asn
ENST00000560223.5:c.*645G>C	ENSP00000454118.1:n.*645G>C
ENST00000560377.5:n.784G>C
ENST00000560796.5:c.*241G>C	ENSP00000454127.1:n.*241G>C
ENST00000561315.5:n.316G>C
NM_003978.3:c.543G>C , LRG_172t1:c.543G>C	NP_003969.2:p.Lys181Asn
XM_006720737.2:c.177G>C	XP_006720800.1:p.Lys59Asn
XM_011522163.1:c.600G>C	XP_011520465.1:p.Lys200Asn
XM_011522164.1:c.498G>C	XP_011520466.1:p.Lys166Asn
XM_011522165.1:c.396G>C	XP_011520467.1:p.Lys132Asn
XM_011522166.1:c.600G>C	XP_011520468.1:p.Lys200Asn
XM_011522167.1:c.600G>C	XP_011520469.1:p.Lys200Asn
XM_011522168.1:c.600G>C	XP_011520470.1:p.Lys200Asn
XM_011522169.1:c.600G>C	XP_011520471.1:p.Lys200Asn
XM_011522170.1:c.352G>C	XP_011520472.1:p.Gly118Arg
XM_011522171.1:c.292G>C	XP_011520473.1:p.Gly98Arg
XM_011522172.1:c.292G>C	XP_011520474.1:p.Gly98Arg
XM_011522173.1:c.292G>C	XP_011520475.1:p.Gly98Arg
XR_931936.1:n.1050G>C
XR_931937.1:n.993G>C
XR_931938.1:n.1050G>C
XR_931939.1:n.1050G>C
XR_931940.1:n.1050G>C
NM_001321135.1:c.543G>C	NP_001308064.1:p.Lys181Asn
NM_001321136.1:c.516G>C	NP_001308065.1:p.Lys172Asn
NM_001321137.1:c.738G>C	NP_001308066.1:p.Lys246Asn
NM_003978.4:c.543G>C	NP_003969.2:p.Lys181Asn
NR_135552.1:n.1032G>C
XM_006720737.3:c.177G>C	XP_006720800.1:p.Lys59Asn
XM_011522163.2:c.600G>C	XP_011520465.1:p.Lys200Asn
XM_011522165.2:c.396G>C	XP_011520467.1:p.Lys132Asn
XM_011522166.2:c.600G>C	XP_011520468.1:p.Lys200Asn
XM_011522167.2:c.600G>C	XP_011520469.1:p.Lys200Asn
XM_011522168.3:c.600G>C	XP_011520470.1:p.Lys200Asn
XM_011522169.2:c.600G>C	XP_011520471.1:p.Lys200Asn
XR_931936.2:n.1048G>C
XR_931937.2:n.991G>C
XR_931938.2:n.1048G>C
XR_931939.2:n.1048G>C
NM_001321135.2:c.543G>C	NP_001308064.1:p.Lys181Asn
NM_001321136.2:c.516G>C	NP_001308065.1:p.Lys172Asn
NM_003978.5:c.543G>C MANE Select	NP_003969.2:p.Lys181Asn
NR_135552.2:n.991G>C