Canonical Allele Identifier: CA8372408

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8235228C>T , CM000679.2:g.8235228C>T	GRCh38
NC_000017.10:g.8138546C>T , CM000679.1:g.8138546C>T	GRCh37
NC_000017.9:g.8079271C>T	NCBI36
NG_032148.1:g.17868G>A
NG_032148.2:g.17868G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.1264G>A	ENSP00000462607.2:p.Ala422Thr
ENST00000581729.2:c.1264G>A	ENSP00000462720.2:p.Ala422Thr
ENST00000581967.2:n.1286G>A
ENST00000583254.2:n.1321G>A
ENST00000699849.1:c.367G>A	ENSP00000514647.1:p.Ala123Thr
ENST00000699850.1:n.527G>A
ENST00000699851.1:n.1286G>A
ENST00000699852.1:c.1264G>A	ENSP00000514648.1:p.Ala422Thr
ENST00000699853.1:c.1264G>A	ENSP00000514649.1:p.Ala422Thr
ENST00000699854.1:n.1057G>A
ENST00000699855.1:n.1286G>A
ENST00000699856.1:c.1264G>A	ENSP00000514650.1:p.Ala422Thr
ENST00000699857.1:n.1272G>A
ENST00000699858.1:c.1110G>A	ENSP00000514651.1:p.Ser370=
ENST00000699859.1:c.1135G>A	ENSP00000514652.1:p.Ala379Thr
ENST00000699861.1:n.1286G>A
ENST00000699862.1:n.1151G>A
ENST00000449476.7:c.1159G>A	ENSP00000396018.2:p.Ala387Thr
ENST00000581671.2:n.1105G>A
ENST00000643543.1:c.1110G>A	ENSP00000494323.1:p.Ser370=
ENST00000651323.1:c.1264G>A MANE Select	ENSP00000498499.1:p.Ala422Thr
ENST00000315684.12:c.1264G>A	ENSP00000313759.8:p.Ala422Thr
ENST00000449476.6:c.1159G>A	ENSP00000396018.2:p.Ala387Thr
ENST00000579066.1:n.139G>A
NM_025099.5:c.1264G>A	NP_079375.3:p.Ala422Thr
NR_046431.1:n.1218G>A
XM_006721577.2:c.1135G>A	XP_006721640.1:p.Ala379Thr
XM_006721578.2:c.1264G>A	XP_006721641.1:p.Ala422Thr
XM_006721579.2:c.1264G>A	XP_006721642.1:p.Ala422Thr
XM_011524010.1:c.1159G>A	XP_011522312.1:p.Ala387Thr
XM_011524011.1:c.367G>A	XP_011522313.1:p.Ala123Thr
XR_429823.2:n.1307G>A
XR_429824.2:n.1307G>A
XR_429825.1:n.1307G>A
NM_025099.6:c.1264G>A MANE Select	NP_079375.3:p.Ala422Thr
XM_006721577.3:c.1135G>A	XP_006721640.1:p.Ala379Thr
XM_006721578.3:c.1264G>A	XP_006721641.1:p.Ala422Thr
XM_011524010.2:c.1159G>A	XP_011522312.1:p.Ala387Thr
XM_011524011.2:c.367G>A	XP_011522313.1:p.Ala123Thr
XR_001752639.1:n.1178G>A
XR_001752640.1:n.1307G>A
XR_001752641.1:n.1307G>A
XR_001752642.1:n.1307G>A
XR_001752643.1:n.1307G>A
XR_001752644.1:n.1307G>A
XR_002958073.1:n.1307G>A
XR_429823.3:n.1307G>A
XR_429824.3:n.1307G>A
NR_046431.2:n.1179G>A