Canonical Allele Identifier: CA8371766
Community Standard Title: NM_025099.6(CTC1):c.3463A>G (p.Ile1155Val)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228554T>C , CM000679.2:g.8228554T>C GRCh38
NC_000017.10:g.8131872T>C , CM000679.1:g.8131872T>C GRCh37
NC_000017.9:g.8072597T>C NCBI36
NG_032148.1:g.24542A>G
NG_032148.2:g.24542A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3463A>G MANE Select NP_079375.3:p.Ile1155Val
ENST00000651323.1:c.3463A>G MANE Select ENSP00000498499.1:p.Ile1155Val
NM_025099.5:c.3463A>G NP_079375.3:p.Ile1155Val
NR_046431.1:n.3352A>G
NR_046431.2:n.3313A>G
ENST00000315684.12:c.3463A>G ENSP00000313759.8:p.Ile1155Val
ENST00000449476.6:c.*197A>G ENSP00000396018.2:n.*197A>G
ENST00000449476.7:c.*197A>G ENSP00000396018.2:n.*197A>G
ENST00000580299.1:c.370A>G ENSP00000462607.1:p.Ile124Val
ENST00000580299.2:c.3199A>G ENSP00000462607.2:p.Ile1067Val
ENST00000581671.2:n.3452A>G
ENST00000581729.1:c.180A>G
ENST00000581729.2:c.3232A>G ENSP00000462720.2:p.Ile1078Val
ENST00000643543.1:c.*2170A>G ENSP00000494323.1:n.*2170A>G
ENST00000699849.1:c.2335A>G ENSP00000514647.1:p.Ile779Val
ENST00000699850.1:n.3395A>G
ENST00000699851.1:n.4349A>G
ENST00000699852.1:c.*1976A>G ENSP00000514648.1:n.*1976A>G
ENST00000699853.1:c.*48A>G ENSP00000514649.1:n.*48A>G
ENST00000699854.1:n.4022A>G
ENST00000699855.1:n.4586A>G
ENST00000699856.1:c.*414A>G ENSP00000514650.1:n.*414A>G
ENST00000699857.1:n.4042A>G
ENST00000699858.1:c.*2747A>G ENSP00000514651.1:n.*2747A>G
ENST00000699859.1:c.*199A>G ENSP00000514652.1:n.*199A>G
ENST00000699860.1:n.2141A>G
ENST00000699861.1:n.3926A>G
XM_006721577.2:c.3334A>G XP_006721640.1:p.Ile1112Val
XM_006721577.3:c.3334A>G XP_006721640.1:p.Ile1112Val
XM_006721578.2:c.3232A>G XP_006721641.1:p.Ile1078Val
XM_006721578.3:c.3232A>G XP_006721641.1:p.Ile1078Val
XM_011524010.1:c.3358A>G XP_011522312.1:p.Ile1120Val
XM_011524010.2:c.3358A>G XP_011522312.1:p.Ile1120Val
XM_011524011.1:c.2566A>G XP_011522313.1:p.Ile856Val
XM_011524011.2:c.2566A>G XP_011522313.1:p.Ile856Val
XR_001752639.1:n.3314A>G
XR_001752640.1:n.3462A>G
XR_001752641.1:n.3397A>G
XR_001752642.1:n.3247A>G
XR_002958073.1:n.3753A>G
XR_429823.2:n.3340A>G
XR_429823.3:n.3340A>G
XR_429824.2:n.3441A>G
XR_429824.3:n.3441A>G