Canonical Allele Identifier: CA775734115
Gene: CTC1 HGNC NCBI

Linked Data

dbSNP Id: rs1353212617
gnomAD v3: 17-8231550-T-A
gnomAD v4: 17-8231550-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231550T>A , CM000679.2:g.8231550T>A GRCh38
NC_000017.10:g.8134868T>A , CM000679.1:g.8134868T>A GRCh37
NC_000017.9:g.8075593T>A NCBI36
NG_032148.1:g.21546A>T
NG_032148.2:g.21546A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.2476-81A>T ENSP00000462607.2:n.2476-81A>T
ENST00000581729.2:c.2476-81A>T ENSP00000462720.2:n.2476-81A>T
ENST00000581967.2:n.2928-81A>T
ENST00000583254.2:n.3444A>T
ENST00000699849.1:c.1579-81A>T ENSP00000514647.1:n.1579-81A>T
ENST00000699850.1:n.1739-81A>T
ENST00000699851.1:n.2498-81A>T
ENST00000699852.1:c.*1152-81A>T ENSP00000514648.1:n.*1152-81A>T
ENST00000699853.1:c.2476-81A>T ENSP00000514649.1:n.2476-81A>T
ENST00000699854.1:n.2269-81A>T
ENST00000699855.1:n.2928-81A>T
ENST00000699856.1:c.2476-81A>T ENSP00000514650.1:n.2476-81A>T
ENST00000699857.1:n.2484-81A>T
ENST00000699858.1:c.*1089-81A>T ENSP00000514651.1:n.*1089-81A>T
ENST00000699859.1:c.2347-81A>T ENSP00000514652.1:n.2347-81A>T
ENST00000699860.1:n.581+176A>T
ENST00000699861.1:n.2498-81A>T
ENST00000699862.1:n.3436-81A>T
ENST00000449476.7:c.2371-81A>T ENSP00000396018.2:n.2371-81A>T
ENST00000581671.2:n.2465-81A>T
ENST00000643543.1:c.*1183-81A>T ENSP00000494323.1:n.*1183-81A>T
ENST00000651323.1:c.2476-81A>T MANE Select ENSP00000498499.1:n.2476-81A>T
ENST00000315684.12:c.2476-81A>T ENSP00000313759.8:n.2476-81A>T
ENST00000449476.6:c.2371-81A>T ENSP00000396018.2:n.2371-81A>T
ENST00000578240.1:n.704-81A>T
ENST00000578537.1:c.371+176A>T
NM_025099.5:c.2476-81A>T NP_079375.3:n.2476-81A>T
NR_046431.1:n.2430-81A>T
XM_006721577.2:c.2347-81A>T XP_006721640.1:n.2347-81A>T
XM_006721578.2:c.2476-81A>T XP_006721641.1:n.2476-81A>T
XM_006721579.2:c.2476-81A>T XP_006721642.1:n.2476-81A>T
XM_011524010.1:c.2371-81A>T XP_011522312.1:n.2371-81A>T
XM_011524011.1:c.1579-81A>T XP_011522313.1:n.1579-81A>T
XR_429823.2:n.2519-81A>T
XR_429824.2:n.2519-81A>T
XR_429825.1:n.2518+176A>T
NM_025099.6:c.2476-81A>T MANE Select NP_079375.3:n.2476-81A>T
XM_006721577.3:c.2347-81A>T XP_006721640.1:n.2347-81A>T
XM_006721578.3:c.2476-81A>T XP_006721641.1:n.2476-81A>T
XM_011524010.2:c.2371-81A>T XP_011522312.1:n.2371-81A>T
XM_011524011.2:c.1579-81A>T XP_011522313.1:n.1579-81A>T
XR_001752639.1:n.2390-81A>T
XR_001752640.1:n.2519-81A>T
XR_001752641.1:n.2519-81A>T
XR_001752642.1:n.2518+176A>T
XR_001752643.1:n.2949-81A>T
XR_002958073.1:n.2518+176A>T
XR_429823.3:n.2519-81A>T
XR_429824.3:n.2519-81A>T
NR_046431.2:n.2391-81A>T