Canonical Allele Identifier: CA397975524

Gene: CTC1

Linked Data

• dbSNP Id: rs1379080486
• gnomAD v2: 17-8134645-T-C
• gnomAD v3: 17-8231327-T-C
• gnomAD v4: 17-8231327-T-C
• MyVariant Identifiers: chr17:g.8134645T>C (hg19) ; chr17:g.8231327T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231327T>C , CM000679.2:g.8231327T>C	GRCh38
NC_000017.10:g.8134645T>C , CM000679.1:g.8134645T>C	GRCh37
NC_000017.9:g.8075370T>C	NCBI36
NG_032148.1:g.21769A>G
NG_032148.2:g.21769A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2618A>G	ENSP00000462607.2:p.Asp873Gly
ENST00000581729.2:c.2618A>G	ENSP00000462720.2:p.Asp873Gly
ENST00000581967.2:n.3070A>G
ENST00000583254.2:n.3667A>G
ENST00000699849.1:c.1721A>G	ENSP00000514647.1:p.Asp574Gly
ENST00000699850.1:n.1881A>G
ENST00000699851.1:n.2640A>G
ENST00000699852.1:c.*1294A>G	ENSP00000514648.1:n.*1294A>G
ENST00000699853.1:c.2618A>G	ENSP00000514649.1:p.Asp873Gly
ENST00000699854.1:n.2411A>G
ENST00000699855.1:n.3070A>G
ENST00000699856.1:c.2618A>G	ENSP00000514650.1:p.Asp873Gly
ENST00000699857.1:n.2626A>G
ENST00000699858.1:c.*1231A>G	ENSP00000514651.1:n.*1231A>G
ENST00000699859.1:c.2489A>G	ENSP00000514652.1:p.Asp830Gly
ENST00000699860.1:n.581+399A>G
ENST00000699861.1:n.2640A>G
ENST00000699862.1:n.3578A>G
ENST00000449476.7:c.2513A>G	ENSP00000396018.2:p.Asp838Gly
ENST00000581671.2:n.2607A>G
ENST00000643543.1:c.*1325A>G	ENSP00000494323.1:n.*1325A>G
ENST00000651323.1:c.2618A>G MANE Select	ENSP00000498499.1:p.Asp873Gly
ENST00000315684.12:c.2618A>G	ENSP00000313759.8:p.Asp873Gly
ENST00000449476.6:c.2513A>G	ENSP00000396018.2:p.Asp838Gly
ENST00000578240.1:n.846A>G
ENST00000578441.5:n.119A>G
ENST00000578537.1:c.371+399A>G
NM_025099.5:c.2618A>G	NP_079375.3:p.Asp873Gly
NR_046431.1:n.2572A>G
XM_006721577.2:c.2489A>G	XP_006721640.1:p.Asp830Gly
XM_006721578.2:c.2618A>G	XP_006721641.1:p.Asp873Gly
XM_006721579.2:c.2618A>G	XP_006721642.1:p.Asp873Gly
XM_011524010.1:c.2513A>G	XP_011522312.1:p.Asp838Gly
XM_011524011.1:c.1721A>G	XP_011522313.1:p.Asp574Gly
XR_429823.2:n.2661A>G
XR_429824.2:n.2661A>G
XR_429825.1:n.2518+399A>G
NM_025099.6:c.2618A>G MANE Select	NP_079375.3:p.Asp873Gly
XM_006721577.3:c.2489A>G	XP_006721640.1:p.Asp830Gly
XM_006721578.3:c.2618A>G	XP_006721641.1:p.Asp873Gly
XM_011524010.2:c.2513A>G	XP_011522312.1:p.Asp838Gly
XM_011524011.2:c.1721A>G	XP_011522313.1:p.Asp574Gly
XR_001752639.1:n.2532A>G
XR_001752640.1:n.2661A>G
XR_001752641.1:n.2661A>G
XR_001752642.1:n.2518+399A>G
XR_001752643.1:n.3091A>G
XR_002958073.1:n.2518+399A>G
XR_429823.3:n.2661A>G
XR_429824.3:n.2661A>G
NR_046431.2:n.2533A>G