Canonical Allele Identifier: CA7676166

Gene: PSTPIP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.77035928C>T , CM000677.2:g.77035928C>T	GRCh38
NC_000015.9:g.77328269C>T , CM000677.1:g.77328269C>T	GRCh37
NC_000015.8:g.75115324C>T	NCBI36
NG_007526.1:g.45805C>T , LRG_172:g.45805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697622.1:n.2278C>T
ENST00000697623.1:n.2531C>T
ENST00000558012.6:c.1112C>T MANE Select	ENSP00000452746.1:p.Thr371Ile
ENST00000379595.7:c.1103C>T	ENSP00000368914.3:p.Thr368Ile
ENST00000557995.1:n.776C>T
ENST00000558012.5:c.1112C>T	ENSP00000452746.1:p.Thr371Ile
ENST00000558870.1:c.261C>T
ENST00000559295.5:c.1055C>T	ENSP00000452743.1:p.Thr352Ile
ENST00000559785.5:c.*87C>T	ENSP00000452986.1:n.*87C>T
ENST00000560064.1:n.235C>T
ENST00000560223.5:c.*1214C>T	ENSP00000454118.1:n.*1214C>T
NM_003978.3:c.1112C>T , LRG_172t1:c.1112C>T	NP_003969.2:p.Thr371Ile
XM_006720737.2:c.746C>T	XP_006720800.1:p.Thr249Ile
XM_011522163.1:c.1160C>T	XP_011520465.1:p.Thr387Ile
XM_011522164.1:c.1067C>T	XP_011520466.1:p.Thr356Ile
XM_011522165.1:c.965C>T	XP_011520467.1:p.Thr322Ile
XM_011522168.1:c.1169C>T	XP_011520470.1:p.Thr390Ile
XM_011522170.1:c.554C>T	XP_011520472.1:p.Thr185Ile
XM_011522171.1:c.494C>T	XP_011520473.1:p.Thr165Ile
XM_011522172.1:c.494C>T	XP_011520474.1:p.Thr165Ile
XM_011522173.1:c.494C>T	XP_011520475.1:p.Thr165Ile
XR_931936.1:n.1653C>T
XR_931937.1:n.1596C>T
XR_931938.1:n.1528C>T
XR_931939.1:n.1431C>T
XR_931940.1:n.1252C>T
NM_001321135.1:c.1055C>T	NP_001308064.1:p.Thr352Ile
NM_001321136.1:c.1085C>T	NP_001308065.1:p.Thr362Ile
NM_001321137.1:c.1307C>T	NP_001308066.1:p.Thr436Ile
NM_003978.4:c.1112C>T	NP_003969.2:p.Thr371Ile
NR_135552.1:n.1333C>T
XM_006720737.3:c.746C>T	XP_006720800.1:p.Thr249Ile
XM_011522163.2:c.1160C>T	XP_011520465.1:p.Thr387Ile
XM_011522165.2:c.965C>T	XP_011520467.1:p.Thr322Ile
XM_011522168.3:c.1169C>T	XP_011520470.1:p.Thr390Ile
XR_931936.2:n.1651C>T
XR_931937.2:n.1594C>T
XR_931938.2:n.1526C>T
XR_931939.2:n.1429C>T
NM_001321135.2:c.1055C>T	NP_001308064.1:p.Thr352Ile
NM_001321136.2:c.1085C>T	NP_001308065.1:p.Thr362Ile
NM_003978.5:c.1112C>T MANE Select	NP_003969.2:p.Thr371Ile
NR_135552.2:n.1292C>T