Canonical Allele Identifier: CA2246175880

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232191G= , CM000679.2:g.8232191G=	GRCh38
NC_000017.10:g.8135509G= , CM000679.1:g.8135509G=	GRCh37
NC_000017.9:g.8076234G=	NCBI36
NG_032148.1:g.20905C=
NG_032148.2:g.20905C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2097C=	ENSP00000462607.2:p.Ile699=
ENST00000581729.2:c.2097C=	ENSP00000462720.2:p.Ile699=
ENST00000581967.2:n.2549C=
ENST00000583254.2:n.2803C=
ENST00000699849.1:c.1200C=	ENSP00000514647.1:p.Ile400=
ENST00000699850.1:n.1360C=
ENST00000699851.1:n.2119C=
ENST00000699852.1:c.*773C=	ENSP00000514648.1:n.*773C=
ENST00000699853.1:c.2097C=	ENSP00000514649.1:p.Ile699=
ENST00000699854.1:n.1890C=
ENST00000699855.1:n.2549C=
ENST00000699856.1:c.2097C=	ENSP00000514650.1:p.Ile699=
ENST00000699857.1:n.2105C=
ENST00000699858.1:c.*710C=	ENSP00000514651.1:n.*710C=
ENST00000699859.1:c.1968C=	ENSP00000514652.1:p.Ile656=
ENST00000699860.1:n.203C=
ENST00000699861.1:n.2119C=
ENST00000699862.1:n.3057C=
ENST00000449476.7:c.1992C=	ENSP00000396018.2:p.Ile664=
ENST00000581671.2:n.2086C=
ENST00000643543.1:c.*804C=	ENSP00000494323.1:n.*804C=
ENST00000651323.1:c.2097C= MANE Select	ENSP00000498499.1:p.Ile699=
ENST00000315684.12:c.2097C=	ENSP00000313759.8:p.Ile699=
ENST00000449476.6:c.1992C=	ENSP00000396018.2:p.Ile664=
ENST00000578240.1:n.325C=
NM_025099.5:c.2097C=	NP_079375.3:p.Ile699=
NR_046431.1:n.2051C=
XM_006721577.2:c.1968C=	XP_006721640.1:p.Ile656=
XM_006721578.2:c.2097C=	XP_006721641.1:p.Ile699=
XM_006721579.2:c.2097C=	XP_006721642.1:p.Ile699=
XM_011524010.1:c.1992C=	XP_011522312.1:p.Ile664=
XM_011524011.1:c.1200C=	XP_011522313.1:p.Ile400=
XR_429823.2:n.2140C=
XR_429824.2:n.2140C=
XR_429825.1:n.2140C=
NM_025099.6:c.2097C= MANE Select	NP_079375.3:p.Ile699=
XM_006721577.3:c.1968C=	XP_006721640.1:p.Ile656=
XM_006721578.3:c.2097C=	XP_006721641.1:p.Ile699=
XM_011524010.2:c.1992C=	XP_011522312.1:p.Ile664=
XM_011524011.2:c.1200C=	XP_011522313.1:p.Ile400=
XR_001752639.1:n.2011C=
XR_001752640.1:n.2140C=
XR_001752641.1:n.2140C=
XR_001752642.1:n.2140C=
XR_001752643.1:n.2570C=
XR_002958073.1:n.2140C=
XR_429823.3:n.2140C=
XR_429824.3:n.2140C=
NR_046431.2:n.2012C=