Canonical Allele Identifier: CA2246190150

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232087A= , CM000679.2:g.8232087A=	GRCh38
NC_000017.10:g.8135405A= , CM000679.1:g.8135405A=	GRCh37
NC_000017.9:g.8076130A=	NCBI36
NG_032148.1:g.21009T=
NG_032148.2:g.21009T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2201T=	ENSP00000462607.2:p.Leu734=
ENST00000581729.2:c.2201T=	ENSP00000462720.2:p.Leu734=
ENST00000581967.2:n.2653T=
ENST00000583254.2:n.2907T=
ENST00000699849.1:c.1304T=	ENSP00000514647.1:p.Leu435=
ENST00000699850.1:n.1464T=
ENST00000699851.1:n.2223T=
ENST00000699852.1:c.*877T=	ENSP00000514648.1:n.*877T=
ENST00000699853.1:c.2201T=	ENSP00000514649.1:p.Leu734=
ENST00000699854.1:n.1994T=
ENST00000699855.1:n.2653T=
ENST00000699856.1:c.2201T=	ENSP00000514650.1:p.Leu734=
ENST00000699857.1:n.2209T=
ENST00000699858.1:c.*814T=	ENSP00000514651.1:n.*814T=
ENST00000699859.1:c.2072T=	ENSP00000514652.1:p.Leu691=
ENST00000699860.1:n.307T=
ENST00000699861.1:n.2223T=
ENST00000699862.1:n.3161T=
ENST00000449476.7:c.2096T=	ENSP00000396018.2:p.Leu699=
ENST00000581671.2:n.2190T=
ENST00000643543.1:c.*908T=	ENSP00000494323.1:n.*908T=
ENST00000651323.1:c.2201T= MANE Select	ENSP00000498499.1:p.Leu734=
ENST00000315684.12:c.2201T=	ENSP00000313759.8:p.Leu734=
ENST00000449476.6:c.2096T=	ENSP00000396018.2:p.Leu699=
ENST00000578240.1:n.429T=
ENST00000578537.1:c.97T=
NM_025099.5:c.2201T=	NP_079375.3:p.Leu734=
NR_046431.1:n.2155T=
XM_006721577.2:c.2072T=	XP_006721640.1:p.Leu691=
XM_006721578.2:c.2201T=	XP_006721641.1:p.Leu734=
XM_006721579.2:c.2201T=	XP_006721642.1:p.Leu734=
XM_011524010.1:c.2096T=	XP_011522312.1:p.Leu699=
XM_011524011.1:c.1304T=	XP_011522313.1:p.Leu435=
XR_429823.2:n.2244T=
XR_429824.2:n.2244T=
XR_429825.1:n.2244T=
NM_025099.6:c.2201T= MANE Select	NP_079375.3:p.Leu734=
XM_006721577.3:c.2072T=	XP_006721640.1:p.Leu691=
XM_006721578.3:c.2201T=	XP_006721641.1:p.Leu734=
XM_011524010.2:c.2096T=	XP_011522312.1:p.Leu699=
XM_011524011.2:c.1304T=	XP_011522313.1:p.Leu435=
XR_001752639.1:n.2115T=
XR_001752640.1:n.2244T=
XR_001752641.1:n.2244T=
XR_001752642.1:n.2244T=
XR_001752643.1:n.2674T=
XR_002958073.1:n.2244T=
XR_429823.3:n.2244T=
XR_429824.3:n.2244T=
NR_046431.2:n.2116T=