Canonical Allele Identifier: CA397976646

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135075T>A (hg19) ; chr17:g.8231757T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231757T>A , CM000679.2:g.8231757T>A	GRCh38
NC_000017.10:g.8135075T>A , CM000679.1:g.8135075T>A	GRCh37
NC_000017.9:g.8075800T>A	NCBI36
NG_032148.1:g.21339A>T
NG_032148.2:g.21339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2444A>T	ENSP00000462607.2:p.Gln815Leu
ENST00000581729.2:c.2444A>T	ENSP00000462720.2:p.Gln815Leu
ENST00000581967.2:n.2896A>T
ENST00000583254.2:n.3237A>T
ENST00000699849.1:c.1547A>T	ENSP00000514647.1:p.Gln516Leu
ENST00000699850.1:n.1707A>T
ENST00000699851.1:n.2466A>T
ENST00000699852.1:c.*1120A>T	ENSP00000514648.1:n.*1120A>T
ENST00000699853.1:c.2444A>T	ENSP00000514649.1:p.Gln815Leu
ENST00000699854.1:n.2237A>T
ENST00000699855.1:n.2896A>T
ENST00000699856.1:c.2444A>T	ENSP00000514650.1:p.Gln815Leu
ENST00000699857.1:n.2452A>T
ENST00000699858.1:c.*1057A>T	ENSP00000514651.1:n.*1057A>T
ENST00000699859.1:c.2315A>T	ENSP00000514652.1:p.Gln772Leu
ENST00000699860.1:n.550A>T
ENST00000699861.1:n.2466A>T
ENST00000699862.1:n.3404A>T
ENST00000449476.7:c.2339A>T	ENSP00000396018.2:p.Gln780Leu
ENST00000581671.2:n.2433A>T
ENST00000643543.1:c.*1151A>T	ENSP00000494323.1:n.*1151A>T
ENST00000651323.1:c.2444A>T MANE Select	ENSP00000498499.1:p.Gln815Leu
ENST00000315684.12:c.2444A>T	ENSP00000313759.8:p.Gln815Leu
ENST00000449476.6:c.2339A>T	ENSP00000396018.2:p.Gln780Leu
ENST00000578240.1:n.672A>T
ENST00000578537.1:c.340A>T
NM_025099.5:c.2444A>T	NP_079375.3:p.Gln815Leu
NR_046431.1:n.2398A>T
XM_006721577.2:c.2315A>T	XP_006721640.1:p.Gln772Leu
XM_006721578.2:c.2444A>T	XP_006721641.1:p.Gln815Leu
XM_006721579.2:c.2444A>T	XP_006721642.1:p.Gln815Leu
XM_011524010.1:c.2339A>T	XP_011522312.1:p.Gln780Leu
XM_011524011.1:c.1547A>T	XP_011522313.1:p.Gln516Leu
XR_429823.2:n.2487A>T
XR_429824.2:n.2487A>T
XR_429825.1:n.2487A>T
NM_025099.6:c.2444A>T MANE Select	NP_079375.3:p.Gln815Leu
XM_006721577.3:c.2315A>T	XP_006721640.1:p.Gln772Leu
XM_006721578.3:c.2444A>T	XP_006721641.1:p.Gln815Leu
XM_011524010.2:c.2339A>T	XP_011522312.1:p.Gln780Leu
XM_011524011.2:c.1547A>T	XP_011522313.1:p.Gln516Leu
XR_001752639.1:n.2358A>T
XR_001752640.1:n.2487A>T
XR_001752641.1:n.2487A>T
XR_001752642.1:n.2487A>T
XR_001752643.1:n.2917A>T
XR_002958073.1:n.2487A>T
XR_429823.3:n.2487A>T
XR_429824.3:n.2487A>T
NR_046431.2:n.2359A>T