Canonical Allele Identifier: CA2246175661

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232108A= , CM000679.2:g.8232108A=	GRCh38
NC_000017.10:g.8135426A= , CM000679.1:g.8135426A=	GRCh37
NC_000017.9:g.8076151A=	NCBI36
NG_032148.1:g.20988T=
NG_032148.2:g.20988T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2180T=	ENSP00000462607.2:p.Leu727=
ENST00000581729.2:c.2180T=	ENSP00000462720.2:p.Leu727=
ENST00000581967.2:n.2632T=
ENST00000583254.2:n.2886T=
ENST00000699849.1:c.1283T=	ENSP00000514647.1:p.Leu428=
ENST00000699850.1:n.1443T=
ENST00000699851.1:n.2202T=
ENST00000699852.1:c.*856T=	ENSP00000514648.1:n.*856T=
ENST00000699853.1:c.2180T=	ENSP00000514649.1:p.Leu727=
ENST00000699854.1:n.1973T=
ENST00000699855.1:n.2632T=
ENST00000699856.1:c.2180T=	ENSP00000514650.1:p.Leu727=
ENST00000699857.1:n.2188T=
ENST00000699858.1:c.*793T=	ENSP00000514651.1:n.*793T=
ENST00000699859.1:c.2051T=	ENSP00000514652.1:p.Leu684=
ENST00000699860.1:n.286T=
ENST00000699861.1:n.2202T=
ENST00000699862.1:n.3140T=
ENST00000449476.7:c.2075T=	ENSP00000396018.2:p.Leu692=
ENST00000581671.2:n.2169T=
ENST00000643543.1:c.*887T=	ENSP00000494323.1:n.*887T=
ENST00000651323.1:c.2180T= MANE Select	ENSP00000498499.1:p.Leu727=
ENST00000315684.12:c.2180T=	ENSP00000313759.8:p.Leu727=
ENST00000449476.6:c.2075T=	ENSP00000396018.2:p.Leu692=
ENST00000578240.1:n.408T=
ENST00000578537.1:c.76T=
NM_025099.5:c.2180T=	NP_079375.3:p.Leu727=
NR_046431.1:n.2134T=
XM_006721577.2:c.2051T=	XP_006721640.1:p.Leu684=
XM_006721578.2:c.2180T=	XP_006721641.1:p.Leu727=
XM_006721579.2:c.2180T=	XP_006721642.1:p.Leu727=
XM_011524010.1:c.2075T=	XP_011522312.1:p.Leu692=
XM_011524011.1:c.1283T=	XP_011522313.1:p.Leu428=
XR_429823.2:n.2223T=
XR_429824.2:n.2223T=
XR_429825.1:n.2223T=
NM_025099.6:c.2180T= MANE Select	NP_079375.3:p.Leu727=
XM_006721577.3:c.2051T=	XP_006721640.1:p.Leu684=
XM_006721578.3:c.2180T=	XP_006721641.1:p.Leu727=
XM_011524010.2:c.2075T=	XP_011522312.1:p.Leu692=
XM_011524011.2:c.1283T=	XP_011522313.1:p.Leu428=
XR_001752639.1:n.2094T=
XR_001752640.1:n.2223T=
XR_001752641.1:n.2223T=
XR_001752642.1:n.2223T=
XR_001752643.1:n.2653T=
XR_002958073.1:n.2223T=
XR_429823.3:n.2223T=
XR_429824.3:n.2223T=
NR_046431.2:n.2095T=