Canonical Allele Identifier: CA8371722

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228311G>A , CM000679.2:g.8228311G>A	GRCh38
NC_000017.10:g.8131629G>A , CM000679.1:g.8131629G>A	GRCh37
NC_000017.9:g.8072354G>A	NCBI36
NG_032148.1:g.24785C>T
NG_032148.2:g.24785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3259C>T	ENSP00000462607.2:p.Arg1087Trp
ENST00000581729.2:c.3292C>T	ENSP00000462720.2:p.Arg1098Trp
ENST00000699849.1:c.2395C>T	ENSP00000514647.1:p.Arg799Trp
ENST00000699850.1:n.3455C>T
ENST00000699851.1:n.4409C>T
ENST00000699852.1:c.*2036C>T	ENSP00000514648.1:n.*2036C>T
ENST00000699853.1:c.*108C>T	ENSP00000514649.1:n.*108C>T
ENST00000699854.1:n.4082C>T
ENST00000699855.1:n.4646C>T
ENST00000699856.1:c.*474C>T	ENSP00000514650.1:n.*474C>T
ENST00000699857.1:n.4102C>T
ENST00000699858.1:c.*2807C>T	ENSP00000514651.1:n.*2807C>T
ENST00000699859.1:c.*259C>T	ENSP00000514652.1:n.*259C>T
ENST00000699860.1:n.2201C>T
ENST00000699861.1:n.3986C>T
ENST00000449476.7:c.*257C>T	ENSP00000396018.2:n.*257C>T
ENST00000581671.2:n.3512C>T
ENST00000643543.1:c.*2230C>T	ENSP00000494323.1:n.*2230C>T
ENST00000651323.1:c.3523C>T MANE Select	ENSP00000498499.1:p.Arg1175Trp
ENST00000315684.12:c.3523C>T	ENSP00000313759.8:p.Arg1175Trp
ENST00000449476.6:c.*257C>T	ENSP00000396018.2:n.*257C>T
ENST00000581729.1:c.240C>T
NM_025099.5:c.3523C>T	NP_079375.3:p.Arg1175Trp
NR_046431.1:n.3412C>T
XM_006721577.2:c.3394C>T	XP_006721640.1:p.Arg1132Trp
XM_006721578.2:c.3292C>T	XP_006721641.1:p.Arg1098Trp
XM_011524010.1:c.3418C>T	XP_011522312.1:p.Arg1140Trp
XM_011524011.1:c.2626C>T	XP_011522313.1:p.Arg876Trp
XR_429823.2:n.3400C>T
XR_429824.2:n.3501C>T
NM_025099.6:c.3523C>T MANE Select	NP_079375.3:p.Arg1175Trp
XM_006721577.3:c.3394C>T	XP_006721640.1:p.Arg1132Trp
XM_006721578.3:c.3292C>T	XP_006721641.1:p.Arg1098Trp
XM_011524010.2:c.3418C>T	XP_011522312.1:p.Arg1140Trp
XM_011524011.2:c.2626C>T	XP_011522313.1:p.Arg876Trp
XR_001752639.1:n.3374C>T
XR_001752640.1:n.3522C>T
XR_001752641.1:n.3457C>T
XR_001752642.1:n.3307C>T
XR_002958073.1:n.3813C>T
XR_429823.3:n.3400C>T
XR_429824.3:n.3501C>T
NR_046431.2:n.3373C>T