Canonical Allele Identifier: CA8371966
Community Standard Title: NM_025099.6(CTC1):c.2783G>T (p.Cys928Phe)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8230444C>A , CM000679.2:g.8230444C>A GRCh38
NC_000017.10:g.8133762C>A , CM000679.1:g.8133762C>A GRCh37
NC_000017.9:g.8074487C>A NCBI36
NG_032148.1:g.22652G>T
NG_032148.2:g.22652G>T

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.2783G>T MANE Select NP_079375.3:p.Cys928Phe
ENST00000651323.1:c.2783G>T MANE Select ENSP00000498499.1:p.Cys928Phe
NM_025099.5:c.2783G>T NP_079375.3:p.Cys928Phe
NR_046431.1:n.2737G>T
NR_046431.2:n.2698G>T
ENST00000315684.12:c.2783G>T ENSP00000313759.8:p.Cys928Phe
ENST00000449476.6:c.2678G>T ENSP00000396018.2:p.Cys893Phe
ENST00000449476.7:c.2678G>T ENSP00000396018.2:p.Cys893Phe
ENST00000578240.1:n.1011G>T
ENST00000578441.5:n.281+3G>T
ENST00000578537.1:c.485G>T
ENST00000580299.2:c.2783G>T ENSP00000462607.2:p.Cys928Phe
ENST00000581671.2:n.2772G>T
ENST00000581729.2:c.2783G>T ENSP00000462720.2:p.Cys928Phe
ENST00000581967.2:n.3235G>T
ENST00000583254.2:n.4456G>T
ENST00000584439.1:n.396G>T
ENST00000643543.1:c.*1490G>T ENSP00000494323.1:n.*1490G>T
ENST00000699849.1:c.1886G>T ENSP00000514647.1:p.Cys629Phe
ENST00000699850.1:n.2046G>T
ENST00000699851.1:n.2805G>T
ENST00000699852.1:c.*1456+3G>T ENSP00000514648.1:n.*1456+3G>T
ENST00000699853.1:c.2783G>T ENSP00000514649.1:p.Cys928Phe
ENST00000699854.1:n.2576G>T
ENST00000699855.1:n.3235G>T
ENST00000699856.1:c.2783G>T ENSP00000514650.1:p.Cys928Phe
ENST00000699857.1:n.2788+3G>T
ENST00000699858.1:c.*1396G>T ENSP00000514651.1:n.*1396G>T
ENST00000699859.1:c.2654G>T ENSP00000514652.1:p.Cys885Phe
ENST00000699860.1:n.695G>T
ENST00000699861.1:n.2805G>T
ENST00000699862.1:n.3743G>T
XM_006721577.2:c.2654G>T XP_006721640.1:p.Cys885Phe
XM_006721577.3:c.2654G>T XP_006721640.1:p.Cys885Phe
XM_006721578.2:c.2783G>T XP_006721641.1:p.Cys928Phe
XM_006721578.3:c.2783G>T XP_006721641.1:p.Cys928Phe
XM_006721579.2:c.2783G>T XP_006721642.1:p.Cys928Phe
XM_011524010.1:c.2678G>T XP_011522312.1:p.Cys893Phe
XM_011524010.2:c.2678G>T XP_011522312.1:p.Cys893Phe
XM_011524011.1:c.1886G>T XP_011522313.1:p.Cys629Phe
XM_011524011.2:c.1886G>T XP_011522313.1:p.Cys629Phe
XR_001752639.1:n.2697G>T
XR_001752640.1:n.2826G>T
XR_001752641.1:n.2826G>T
XR_001752642.1:n.2632G>T
XR_001752643.1:n.3256G>T
XR_002958073.1:n.2632G>T
XR_429823.2:n.2826G>T
XR_429823.3:n.2826G>T
XR_429824.2:n.2826G>T
XR_429824.3:n.2826G>T
XR_429825.1:n.2632G>T