Canonical Allele Identifier: CA393521498

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325291G>C (hg19) ; chr15:g.77032950G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032950G>C , CM000677.2:g.77032950G>C	GRCh38
NC_000015.9:g.77325291G>C , CM000677.1:g.77325291G>C	GRCh37
NC_000015.8:g.75112346G>C	NCBI36
NG_007526.1:g.42827G>C , LRG_172:g.42827G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2093G>C
ENST00000697623.1:n.2346G>C
ENST00000558012.6:c.927G>C MANE Select	ENSP00000452746.1:p.Lys309Asn
ENST00000379595.7:c.927G>C	ENSP00000368914.3:p.Lys309Asn
ENST00000557995.1:n.591G>C
ENST00000558012.5:c.927G>C	ENSP00000452746.1:p.Lys309Asn
ENST00000558870.1:c.78+556G>C
ENST00000559295.5:c.872+522G>C	ENSP00000452743.1:n.872+522G>C
ENST00000559785.5:c.1156G>C	ENSP00000452986.1:p.Glu386Gln
ENST00000560223.5:c.*1029G>C	ENSP00000454118.1:n.*1029G>C
NM_003978.3:c.927G>C , LRG_172t1:c.927G>C	NP_003969.2:p.Lys309Asn
XM_006720737.2:c.561G>C	XP_006720800.1:p.Lys187Asn
XM_011522163.1:c.984G>C	XP_011520465.1:p.Lys328Asn
XM_011522164.1:c.882G>C	XP_011520466.1:p.Lys294Asn
XM_011522165.1:c.780G>C	XP_011520467.1:p.Lys260Asn
XM_011522166.1:c.1018G>C	XP_011520468.1:p.Glu340Gln
XM_011522167.1:c.895+556G>C	XP_011520469.1:n.895+556G>C
XM_011522168.1:c.984G>C	XP_011520470.1:p.Lys328Asn
XM_011522169.1:c.798+1672G>C	XP_011520471.1:n.798+1672G>C
XM_011522170.1:c.372-2558G>C	XP_011520472.1:n.372-2558G>C
XM_011522171.1:c.312-2558G>C	XP_011520473.1:n.312-2558G>C
XM_011522172.1:c.312-2558G>C	XP_011520474.1:n.312-2558G>C
XM_011522173.1:c.312-2558G>C	XP_011520475.1:n.312-2558G>C
XR_931936.1:n.1468G>C
XR_931937.1:n.1411G>C
XR_931938.1:n.1345+556G>C
XR_931939.1:n.1248+1672G>C
XR_931940.1:n.1070-2558G>C
NM_001321135.1:c.872+522G>C	NP_001308064.1:n.872+522G>C
NM_001321136.1:c.900G>C	NP_001308065.1:p.Lys300Asn
NM_001321137.1:c.1122G>C	NP_001308066.1:p.Lys374Asn
NM_003978.4:c.927G>C	NP_003969.2:p.Lys309Asn
NR_135552.1:n.1150+1672G>C
XM_006720737.3:c.561G>C	XP_006720800.1:p.Lys187Asn
XM_011522163.2:c.984G>C	XP_011520465.1:p.Lys328Asn
XM_011522165.2:c.780G>C	XP_011520467.1:p.Lys260Asn
XM_011522166.2:c.1018G>C	XP_011520468.1:p.Glu340Gln
XM_011522167.2:c.895+556G>C	XP_011520469.1:n.895+556G>C
XM_011522168.3:c.984G>C	XP_011520470.1:p.Lys328Asn
XM_011522169.2:c.798+1672G>C	XP_011520471.1:n.798+1672G>C
XR_931936.2:n.1466G>C
XR_931937.2:n.1409G>C
XR_931938.2:n.1343+556G>C
XR_931939.2:n.1246+1672G>C
NM_001321135.2:c.872+522G>C	NP_001308064.1:n.872+522G>C
NM_001321136.2:c.900G>C	NP_001308065.1:p.Lys300Asn
NM_003978.5:c.927G>C MANE Select	NP_003969.2:p.Lys309Asn
NR_135552.2:n.1109+1672G>C