Canonical Allele Identifier: CA397976256

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8134769T>C (hg19) ; chr17:g.8231451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231451T>C , CM000679.2:g.8231451T>C	GRCh38
NC_000017.10:g.8134769T>C , CM000679.1:g.8134769T>C	GRCh37
NC_000017.9:g.8075494T>C	NCBI36
NG_032148.1:g.21645A>G
NG_032148.2:g.21645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2494A>G	ENSP00000462607.2:p.Lys832Glu
ENST00000581729.2:c.2494A>G	ENSP00000462720.2:p.Lys832Glu
ENST00000581967.2:n.2946A>G
ENST00000583254.2:n.3543A>G
ENST00000699849.1:c.1597A>G	ENSP00000514647.1:p.Lys533Glu
ENST00000699850.1:n.1757A>G
ENST00000699851.1:n.2516A>G
ENST00000699852.1:c.*1170A>G	ENSP00000514648.1:n.*1170A>G
ENST00000699853.1:c.2494A>G	ENSP00000514649.1:p.Lys832Glu
ENST00000699854.1:n.2287A>G
ENST00000699855.1:n.2946A>G
ENST00000699856.1:c.2494A>G	ENSP00000514650.1:p.Lys832Glu
ENST00000699857.1:n.2502A>G
ENST00000699858.1:c.*1107A>G	ENSP00000514651.1:n.*1107A>G
ENST00000699859.1:c.2365A>G	ENSP00000514652.1:p.Lys789Glu
ENST00000699860.1:n.581+275A>G
ENST00000699861.1:n.2516A>G
ENST00000699862.1:n.3454A>G
ENST00000449476.7:c.2389A>G	ENSP00000396018.2:p.Lys797Glu
ENST00000581671.2:n.2483A>G
ENST00000643543.1:c.*1201A>G	ENSP00000494323.1:n.*1201A>G
ENST00000651323.1:c.2494A>G MANE Select	ENSP00000498499.1:p.Lys832Glu
ENST00000315684.12:c.2494A>G	ENSP00000313759.8:p.Lys832Glu
ENST00000449476.6:c.2389A>G	ENSP00000396018.2:p.Lys797Glu
ENST00000578240.1:n.722A>G
ENST00000578537.1:c.371+275A>G
NM_025099.5:c.2494A>G	NP_079375.3:p.Lys832Glu
NR_046431.1:n.2448A>G
XM_006721577.2:c.2365A>G	XP_006721640.1:p.Lys789Glu
XM_006721578.2:c.2494A>G	XP_006721641.1:p.Lys832Glu
XM_006721579.2:c.2494A>G	XP_006721642.1:p.Lys832Glu
XM_011524010.1:c.2389A>G	XP_011522312.1:p.Lys797Glu
XM_011524011.1:c.1597A>G	XP_011522313.1:p.Lys533Glu
XR_429823.2:n.2537A>G
XR_429824.2:n.2537A>G
XR_429825.1:n.2518+275A>G
NM_025099.6:c.2494A>G MANE Select	NP_079375.3:p.Lys832Glu
XM_006721577.3:c.2365A>G	XP_006721640.1:p.Lys789Glu
XM_006721578.3:c.2494A>G	XP_006721641.1:p.Lys832Glu
XM_011524010.2:c.2389A>G	XP_011522312.1:p.Lys797Glu
XM_011524011.2:c.1597A>G	XP_011522313.1:p.Lys533Glu
XR_001752639.1:n.2408A>G
XR_001752640.1:n.2537A>G
XR_001752641.1:n.2537A>G
XR_001752642.1:n.2518+275A>G
XR_001752643.1:n.2967A>G
XR_002958073.1:n.2518+275A>G
XR_429823.3:n.2537A>G
XR_429824.3:n.2537A>G
NR_046431.2:n.2409A>G