Canonical Allele Identifier: CA393521427

Gene: PSTPIP1

Linked Data

• MyVariant Identifiers: chr15:g.77325257G>C (hg19) ; chr15:g.77032916G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77032916G>C , CM000677.2:g.77032916G>C	GRCh38
NC_000015.9:g.77325257G>C , CM000677.1:g.77325257G>C	GRCh37
NC_000015.8:g.75112312G>C	NCBI36
NG_007526.1:g.42793G>C , LRG_172:g.42793G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2059G>C
ENST00000697623.1:n.2312G>C
ENST00000558012.6:c.893G>C MANE Select	ENSP00000452746.1:p.Ser298Thr
ENST00000379595.7:c.893G>C	ENSP00000368914.3:p.Ser298Thr
ENST00000557995.1:n.557G>C
ENST00000558012.5:c.893G>C	ENSP00000452746.1:p.Ser298Thr
ENST00000558870.1:c.78+522G>C
ENST00000559295.5:c.872+488G>C	ENSP00000452743.1:n.872+488G>C
ENST00000559785.5:c.1122G>C	ENSP00000452986.1:p.Gln374His
ENST00000560223.5:c.*995G>C	ENSP00000454118.1:n.*995G>C
NM_003978.3:c.893G>C , LRG_172t1:c.893G>C	NP_003969.2:p.Ser298Thr
XM_006720737.2:c.527G>C	XP_006720800.1:p.Ser176Thr
XM_011522163.1:c.950G>C	XP_011520465.1:p.Ser317Thr
XM_011522164.1:c.848G>C	XP_011520466.1:p.Ser283Thr
XM_011522165.1:c.746G>C	XP_011520467.1:p.Ser249Thr
XM_011522166.1:c.984G>C	XP_011520468.1:p.Gln328His
XM_011522167.1:c.895+522G>C	XP_011520469.1:n.895+522G>C
XM_011522168.1:c.950G>C	XP_011520470.1:p.Ser317Thr
XM_011522169.1:c.798+1638G>C	XP_011520471.1:n.798+1638G>C
XM_011522170.1:c.372-2592G>C	XP_011520472.1:n.372-2592G>C
XM_011522171.1:c.312-2592G>C	XP_011520473.1:n.312-2592G>C
XM_011522172.1:c.312-2592G>C	XP_011520474.1:n.312-2592G>C
XM_011522173.1:c.312-2592G>C	XP_011520475.1:n.312-2592G>C
XR_931936.1:n.1434G>C
XR_931937.1:n.1377G>C
XR_931938.1:n.1345+522G>C
XR_931939.1:n.1248+1638G>C
XR_931940.1:n.1070-2592G>C
NM_001321135.1:c.872+488G>C	NP_001308064.1:n.872+488G>C
NM_001321136.1:c.866G>C	NP_001308065.1:p.Ser289Thr
NM_001321137.1:c.1088G>C	NP_001308066.1:p.Ser363Thr
NM_003978.4:c.893G>C	NP_003969.2:p.Ser298Thr
NR_135552.1:n.1150+1638G>C
XM_006720737.3:c.527G>C	XP_006720800.1:p.Ser176Thr
XM_011522163.2:c.950G>C	XP_011520465.1:p.Ser317Thr
XM_011522165.2:c.746G>C	XP_011520467.1:p.Ser249Thr
XM_011522166.2:c.984G>C	XP_011520468.1:p.Gln328His
XM_011522167.2:c.895+522G>C	XP_011520469.1:n.895+522G>C
XM_011522168.3:c.950G>C	XP_011520470.1:p.Ser317Thr
XM_011522169.2:c.798+1638G>C	XP_011520471.1:n.798+1638G>C
XR_931936.2:n.1432G>C
XR_931937.2:n.1375G>C
XR_931938.2:n.1343+522G>C
XR_931939.2:n.1246+1638G>C
NM_001321135.2:c.872+488G>C	NP_001308064.1:n.872+488G>C
NM_001321136.2:c.866G>C	NP_001308065.1:p.Ser289Thr
NM_003978.5:c.893G>C MANE Select	NP_003969.2:p.Ser298Thr
NR_135552.2:n.1109+1638G>C