Canonical Allele Identifier: CA2246190148

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232084A= , CM000679.2:g.8232084A=	GRCh38
NC_000017.10:g.8135402A= , CM000679.1:g.8135402A=	GRCh37
NC_000017.9:g.8076127A=	NCBI36
NG_032148.1:g.21012T=
NG_032148.2:g.21012T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2204T=	ENSP00000462607.2:p.Leu735=
ENST00000581729.2:c.2204T=	ENSP00000462720.2:p.Leu735=
ENST00000581967.2:n.2656T=
ENST00000583254.2:n.2910T=
ENST00000699849.1:c.1307T=	ENSP00000514647.1:p.Leu436=
ENST00000699850.1:n.1467T=
ENST00000699851.1:n.2226T=
ENST00000699852.1:c.*880T=	ENSP00000514648.1:n.*880T=
ENST00000699853.1:c.2204T=	ENSP00000514649.1:p.Leu735=
ENST00000699854.1:n.1997T=
ENST00000699855.1:n.2656T=
ENST00000699856.1:c.2204T=	ENSP00000514650.1:p.Leu735=
ENST00000699857.1:n.2212T=
ENST00000699858.1:c.*817T=	ENSP00000514651.1:n.*817T=
ENST00000699859.1:c.2075T=	ENSP00000514652.1:p.Leu692=
ENST00000699860.1:n.310T=
ENST00000699861.1:n.2226T=
ENST00000699862.1:n.3164T=
ENST00000449476.7:c.2099T=	ENSP00000396018.2:p.Leu700=
ENST00000581671.2:n.2193T=
ENST00000643543.1:c.*911T=	ENSP00000494323.1:n.*911T=
ENST00000651323.1:c.2204T= MANE Select	ENSP00000498499.1:p.Leu735=
ENST00000315684.12:c.2204T=	ENSP00000313759.8:p.Leu735=
ENST00000449476.6:c.2099T=	ENSP00000396018.2:p.Leu700=
ENST00000578240.1:n.432T=
ENST00000578537.1:c.100T=
NM_025099.5:c.2204T=	NP_079375.3:p.Leu735=
NR_046431.1:n.2158T=
XM_006721577.2:c.2075T=	XP_006721640.1:p.Leu692=
XM_006721578.2:c.2204T=	XP_006721641.1:p.Leu735=
XM_006721579.2:c.2204T=	XP_006721642.1:p.Leu735=
XM_011524010.1:c.2099T=	XP_011522312.1:p.Leu700=
XM_011524011.1:c.1307T=	XP_011522313.1:p.Leu436=
XR_429823.2:n.2247T=
XR_429824.2:n.2247T=
XR_429825.1:n.2247T=
NM_025099.6:c.2204T= MANE Select	NP_079375.3:p.Leu735=
XM_006721577.3:c.2075T=	XP_006721640.1:p.Leu692=
XM_006721578.3:c.2204T=	XP_006721641.1:p.Leu735=
XM_011524010.2:c.2099T=	XP_011522312.1:p.Leu700=
XM_011524011.2:c.1307T=	XP_011522313.1:p.Leu436=
XR_001752639.1:n.2118T=
XR_001752640.1:n.2247T=
XR_001752641.1:n.2247T=
XR_001752642.1:n.2247T=
XR_001752643.1:n.2677T=
XR_002958073.1:n.2247T=
XR_429823.3:n.2247T=
XR_429824.3:n.2247T=
NR_046431.2:n.2119T=