Canonical Allele Identifier: CA8372025

Gene: CTC1

Linked Data

• dbSNP Id: rs765972585
• ExAC: 17:8134659 G / C
• gnomAD v2: 17-8134659-G-C
• gnomAD v4: 17-8231341-G-C
• MyVariant Identifiers: chr17:g.8134659G>C (hg19) ; chr17:g.8231341G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231341G>C , CM000679.2:g.8231341G>C	GRCh38
NC_000017.10:g.8134659G>C , CM000679.1:g.8134659G>C	GRCh37
NC_000017.9:g.8075384G>C	NCBI36
NG_032148.1:g.21755C>G
NG_032148.2:g.21755C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000580299.2:c.2604C>G	ENSP00000462607.2:p.Ile868Met
ENST00000581729.2:c.2604C>G	ENSP00000462720.2:p.Ile868Met
ENST00000581967.2:n.3056C>G
ENST00000583254.2:n.3653C>G
ENST00000699849.1:c.1707C>G	ENSP00000514647.1:p.Ile569Met
ENST00000699850.1:n.1867C>G
ENST00000699851.1:n.2626C>G
ENST00000699852.1:c.*1280C>G	ENSP00000514648.1:n.*1280C>G
ENST00000699853.1:c.2604C>G	ENSP00000514649.1:p.Ile868Met
ENST00000699854.1:n.2397C>G
ENST00000699855.1:n.3056C>G
ENST00000699856.1:c.2604C>G	ENSP00000514650.1:p.Ile868Met
ENST00000699857.1:n.2612C>G
ENST00000699858.1:c.*1217C>G	ENSP00000514651.1:n.*1217C>G
ENST00000699859.1:c.2475C>G	ENSP00000514652.1:p.Ile825Met
ENST00000699860.1:n.581+385C>G
ENST00000699861.1:n.2626C>G
ENST00000699862.1:n.3564C>G
ENST00000449476.7:c.2499C>G	ENSP00000396018.2:p.Ile833Met
ENST00000581671.2:n.2593C>G
ENST00000643543.1:c.*1311C>G	ENSP00000494323.1:n.*1311C>G
ENST00000651323.1:c.2604C>G MANE Select	ENSP00000498499.1:p.Ile868Met
ENST00000315684.12:c.2604C>G	ENSP00000313759.8:p.Ile868Met
ENST00000449476.6:c.2499C>G	ENSP00000396018.2:p.Ile833Met
ENST00000578240.1:n.832C>G
ENST00000578441.5:n.105C>G
ENST00000578537.1:c.371+385C>G
NM_025099.5:c.2604C>G	NP_079375.3:p.Ile868Met
NR_046431.1:n.2558C>G
XM_006721577.2:c.2475C>G	XP_006721640.1:p.Ile825Met
XM_006721578.2:c.2604C>G	XP_006721641.1:p.Ile868Met
XM_006721579.2:c.2604C>G	XP_006721642.1:p.Ile868Met
XM_011524010.1:c.2499C>G	XP_011522312.1:p.Ile833Met
XM_011524011.1:c.1707C>G	XP_011522313.1:p.Ile569Met
XR_429823.2:n.2647C>G
XR_429824.2:n.2647C>G
XR_429825.1:n.2518+385C>G
NM_025099.6:c.2604C>G MANE Select	NP_079375.3:p.Ile868Met
XM_006721577.3:c.2475C>G	XP_006721640.1:p.Ile825Met
XM_006721578.3:c.2604C>G	XP_006721641.1:p.Ile868Met
XM_011524010.2:c.2499C>G	XP_011522312.1:p.Ile833Met
XM_011524011.2:c.1707C>G	XP_011522313.1:p.Ile569Met
XR_001752639.1:n.2518C>G
XR_001752640.1:n.2647C>G
XR_001752641.1:n.2647C>G
XR_001752642.1:n.2518+385C>G
XR_001752643.1:n.3077C>G
XR_002958073.1:n.2518+385C>G
XR_429823.3:n.2647C>G
XR_429824.3:n.2647C>G
NR_046431.2:n.2519C>G