Canonical Allele Identifier: CA397968434

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228559C>T , CM000679.2:g.8228559C>T	GRCh38
NC_000017.10:g.8131877C>T , CM000679.1:g.8131877C>T	GRCh37
NC_000017.9:g.8072602C>T	NCBI36
NG_032148.1:g.24537G>A
NG_032148.2:g.24537G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.3458G>A MANE Select	NP_079375.3:p.Arg1153His
ENST00000651323.1:c.3458G>A MANE Select	ENSP00000498499.1:p.Arg1153His
NM_025099.5:c.3458G>A	NP_079375.3:p.Arg1153His
NR_046431.1:n.3347G>A
NR_046431.2:n.3308G>A
ENST00000315684.12:c.3458G>A	ENSP00000313759.8:p.Arg1153His
ENST00000449476.6:c.*192G>A	ENSP00000396018.2:n.*192G>A
ENST00000449476.7:c.*192G>A	ENSP00000396018.2:n.*192G>A
ENST00000580299.1:c.365G>A	ENSP00000462607.1:p.Arg122His
ENST00000580299.2:c.3194G>A	ENSP00000462607.2:p.Arg1065His
ENST00000581671.2:n.3447G>A
ENST00000581729.1:c.175G>A
ENST00000581729.2:c.3227G>A	ENSP00000462720.2:p.Arg1076His
ENST00000643543.1:c.*2165G>A	ENSP00000494323.1:n.*2165G>A
ENST00000699849.1:c.2330G>A	ENSP00000514647.1:p.Arg777His
ENST00000699850.1:n.3390G>A
ENST00000699851.1:n.4344G>A
ENST00000699852.1:c.*1971G>A	ENSP00000514648.1:n.*1971G>A
ENST00000699853.1:c.*43G>A	ENSP00000514649.1:n.*43G>A
ENST00000699854.1:n.4017G>A
ENST00000699855.1:n.4581G>A
ENST00000699856.1:c.*409G>A	ENSP00000514650.1:n.*409G>A
ENST00000699857.1:n.4037G>A
ENST00000699858.1:c.*2742G>A	ENSP00000514651.1:n.*2742G>A
ENST00000699859.1:c.*194G>A	ENSP00000514652.1:n.*194G>A
ENST00000699860.1:n.2136G>A
ENST00000699861.1:n.3921G>A
XM_006721577.2:c.3329G>A	XP_006721640.1:p.Arg1110His
XM_006721577.3:c.3329G>A	XP_006721640.1:p.Arg1110His
XM_006721578.2:c.3227G>A	XP_006721641.1:p.Arg1076His
XM_006721578.3:c.3227G>A	XP_006721641.1:p.Arg1076His
XM_011524010.1:c.3353G>A	XP_011522312.1:p.Arg1118His
XM_011524010.2:c.3353G>A	XP_011522312.1:p.Arg1118His
XM_011524011.1:c.2561G>A	XP_011522313.1:p.Arg854His
XM_011524011.2:c.2561G>A	XP_011522313.1:p.Arg854His
XR_001752639.1:n.3309G>A
XR_001752640.1:n.3457G>A
XR_001752641.1:n.3392G>A
XR_001752642.1:n.3242G>A
XR_002958073.1:n.3748G>A
XR_429823.2:n.3335G>A
XR_429823.3:n.3335G>A
XR_429824.2:n.3436G>A
XR_429824.3:n.3436G>A