Canonical Allele Identifier: CA7676201

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77037059G>A , CM000677.2:g.77037059G>A	GRCh38
NC_000015.9:g.77329400G>A , CM000677.1:g.77329400G>A	GRCh37
NC_000015.8:g.75116455G>A	NCBI36
NG_007526.1:g.46936G>A , LRG_172:g.46936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2300G>A
ENST00000697623.1:n.2553G>A
ENST00000558012.6:c.1134G>A MANE Select	ENSP00000452746.1:p.Leu378=
ENST00000379595.7:c.1125G>A	ENSP00000368914.3:p.Leu375=
ENST00000557995.1:n.798G>A
ENST00000558012.5:c.1134G>A	ENSP00000452746.1:p.Leu378=
ENST00000558870.1:c.283G>A
ENST00000559295.5:c.1077G>A	ENSP00000452743.1:p.Leu359=
ENST00000559785.5:c.*109G>A	ENSP00000452986.1:n.*109G>A
ENST00000560064.1:n.257G>A
ENST00000560223.5:c.*1236G>A	ENSP00000454118.1:n.*1236G>A
NM_003978.3:c.1134G>A , LRG_172t1:c.1134G>A	NP_003969.2:p.Leu378=
XM_006720737.2:c.768G>A	XP_006720800.1:p.Leu256=
XM_011522163.1:c.1182G>A	XP_011520465.1:p.Leu394=
XM_011522164.1:c.1089G>A	XP_011520466.1:p.Leu363=
XM_011522165.1:c.987G>A	XP_011520467.1:p.Leu329=
XM_011522168.1:c.1191G>A	XP_011520470.1:p.Leu397=
XM_011522170.1:c.576G>A	XP_011520472.1:p.Leu192=
XM_011522171.1:c.516G>A	XP_011520473.1:p.Leu172=
XM_011522172.1:c.516G>A	XP_011520474.1:p.Leu172=
XM_011522173.1:c.516G>A	XP_011520475.1:p.Leu172=
XR_931936.1:n.1675G>A
XR_931937.1:n.1618G>A
XR_931938.1:n.1550G>A
XR_931939.1:n.1453G>A
XR_931940.1:n.1274G>A
NM_001321135.1:c.1077G>A	NP_001308064.1:p.Leu359=
NM_001321136.1:c.1107G>A	NP_001308065.1:p.Leu369=
NM_001321137.1:c.1329G>A	NP_001308066.1:p.Leu443=
NM_003978.4:c.1134G>A	NP_003969.2:p.Leu378=
NR_135552.1:n.1355G>A
XM_006720737.3:c.768G>A	XP_006720800.1:p.Leu256=
XM_011522163.2:c.1182G>A	XP_011520465.1:p.Leu394=
XM_011522165.2:c.987G>A	XP_011520467.1:p.Leu329=
XM_011522168.3:c.1191G>A	XP_011520470.1:p.Leu397=
XR_931936.2:n.1673G>A
XR_931937.2:n.1616G>A
XR_931938.2:n.1548G>A
XR_931939.2:n.1451G>A
NM_001321135.2:c.1077G>A	NP_001308064.1:p.Leu359=
NM_001321136.2:c.1107G>A	NP_001308065.1:p.Leu369=
NM_003978.5:c.1134G>A MANE Select	NP_003969.2:p.Leu378=
NR_135552.2:n.1314G>A