Canonical Allele Identifier: CA8371702

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228234A>G , CM000679.2:g.8228234A>G	GRCh38
NC_000017.10:g.8131552A>G , CM000679.1:g.8131552A>G	GRCh37
NC_000017.9:g.8072277A>G	NCBI36
NG_032148.1:g.24862T>C
NG_032148.2:g.24862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3336T>C	ENSP00000462607.2:p.Ser1112=
ENST00000581729.2:c.3369T>C	ENSP00000462720.2:p.Ser1123=
ENST00000699849.1:c.2472T>C	ENSP00000514647.1:p.Ser824=
ENST00000699850.1:n.3532T>C
ENST00000699851.1:n.4486T>C
ENST00000699852.1:c.*2113T>C	ENSP00000514648.1:n.*2113T>C
ENST00000699853.1:c.*185T>C	ENSP00000514649.1:n.*185T>C
ENST00000699854.1:n.4159T>C
ENST00000699855.1:n.4723T>C
ENST00000699856.1:c.*551T>C	ENSP00000514650.1:n.*551T>C
ENST00000699857.1:n.4179T>C
ENST00000699858.1:c.*2884T>C	ENSP00000514651.1:n.*2884T>C
ENST00000699859.1:c.*336T>C	ENSP00000514652.1:n.*336T>C
ENST00000699860.1:n.2278T>C
ENST00000699861.1:n.4063T>C
ENST00000449476.7:c.*334T>C	ENSP00000396018.2:n.*334T>C
ENST00000581671.2:n.3589T>C
ENST00000643543.1:c.*2307T>C	ENSP00000494323.1:n.*2307T>C
ENST00000651323.1:c.3600T>C MANE Select	ENSP00000498499.1:p.Ser1200=
ENST00000315684.12:c.3600T>C	ENSP00000313759.8:p.Ser1200=
ENST00000449476.6:c.*334T>C	ENSP00000396018.2:n.*334T>C
ENST00000581729.1:c.317T>C
NM_025099.5:c.3600T>C	NP_079375.3:p.Ser1200=
NR_046431.1:n.3489T>C
XM_006721577.2:c.3471T>C	XP_006721640.1:p.Ser1157=
XM_006721578.2:c.3369T>C	XP_006721641.1:p.Ser1123=
XM_011524010.1:c.3495T>C	XP_011522312.1:p.Ser1165=
XM_011524011.1:c.2703T>C	XP_011522313.1:p.Ser901=
XR_429823.2:n.3477T>C
XR_429824.2:n.3578T>C
NM_025099.6:c.3600T>C MANE Select	NP_079375.3:p.Ser1200=
XM_006721577.3:c.3471T>C	XP_006721640.1:p.Ser1157=
XM_006721578.3:c.3369T>C	XP_006721641.1:p.Ser1123=
XM_011524010.2:c.3495T>C	XP_011522312.1:p.Ser1165=
XM_011524011.2:c.2703T>C	XP_011522313.1:p.Ser901=
XR_001752639.1:n.3451T>C
XR_001752640.1:n.3599T>C
XR_001752641.1:n.3534T>C
XR_001752642.1:n.3384T>C
XR_002958073.1:n.3890T>C
XR_429823.3:n.3477T>C
XR_429824.3:n.3578T>C
NR_046431.2:n.3450T>C