Canonical Allele Identifier: CA7676224

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037132G>C , CM000677.2:g.77037132G>C	GRCh38
NC_000015.9:g.77329473G>C , CM000677.1:g.77329473G>C	GRCh37
NC_000015.8:g.75116528G>C	NCBI36
NG_007526.1:g.47009G>C , LRG_172:g.47009G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2373G>C
ENST00000697623.1:n.2626G>C
ENST00000558012.6:c.1207G>C MANE Select	ENSP00000452746.1:p.Gly403Arg
ENST00000379595.7:c.1198G>C	ENSP00000368914.3:p.Gly400Arg
ENST00000557995.1:n.871G>C
ENST00000558012.5:c.1207G>C	ENSP00000452746.1:p.Gly403Arg
ENST00000558870.1:c.356G>C
ENST00000559295.5:c.1150G>C	ENSP00000452743.1:p.Gly384Arg
ENST00000559785.5:c.*182G>C	ENSP00000452986.1:n.*182G>C
ENST00000560064.1:n.330G>C
ENST00000560223.5:c.*1309G>C	ENSP00000454118.1:n.*1309G>C
NM_003978.3:c.1207G>C , LRG_172t1:c.1207G>C	NP_003969.2:p.Gly403Arg
XM_006720737.2:c.841G>C	XP_006720800.1:p.Gly281Arg
XM_011522163.1:c.1255G>C	XP_011520465.1:p.Gly419Arg
XM_011522164.1:c.1162G>C	XP_011520466.1:p.Gly388Arg
XM_011522165.1:c.1060G>C	XP_011520467.1:p.Gly354Arg
XM_011522168.1:c.1264G>C	XP_011520470.1:p.Gly422Arg
XM_011522170.1:c.649G>C	XP_011520472.1:p.Gly217Arg
XM_011522171.1:c.589G>C	XP_011520473.1:p.Gly197Arg
XM_011522172.1:c.589G>C	XP_011520474.1:p.Gly197Arg
XM_011522173.1:c.589G>C	XP_011520475.1:p.Gly197Arg
XR_931936.1:n.1748G>C
XR_931937.1:n.1691G>C
XR_931938.1:n.1623G>C
XR_931939.1:n.1526G>C
XR_931940.1:n.1347G>C
NM_001321135.1:c.1150G>C	NP_001308064.1:p.Gly384Arg
NM_001321136.1:c.1180G>C	NP_001308065.1:p.Gly394Arg
NM_001321137.1:c.1402G>C	NP_001308066.1:p.Gly468Arg
NM_003978.4:c.1207G>C	NP_003969.2:p.Gly403Arg
NR_135552.1:n.1428G>C
XM_006720737.3:c.841G>C	XP_006720800.1:p.Gly281Arg
XM_011522163.2:c.1255G>C	XP_011520465.1:p.Gly419Arg
XM_011522165.2:c.1060G>C	XP_011520467.1:p.Gly354Arg
XM_011522168.3:c.1264G>C	XP_011520470.1:p.Gly422Arg
XR_931936.2:n.1746G>C
XR_931937.2:n.1689G>C
XR_931938.2:n.1621G>C
XR_931939.2:n.1524G>C
NM_001321135.2:c.1150G>C	NP_001308064.1:p.Gly384Arg
NM_001321136.2:c.1180G>C	NP_001308065.1:p.Gly394Arg
NM_003978.5:c.1207G>C MANE Select	NP_003969.2:p.Gly403Arg
NR_135552.2:n.1387G>C