Canonical Allele Identifier: CA2246185918
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228592A= , CM000679.2:g.8228592A= GRCh38
NC_000017.10:g.8131910A= , CM000679.1:g.8131910A= GRCh37
NC_000017.9:g.8072635A= NCBI36
NG_032148.1:g.24504T=
NG_032148.2:g.24504T=

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3425T= MANE Select NP_079375.3:p.Leu1142=
ENST00000651323.1:c.3425T= MANE Select ENSP00000498499.1:p.Leu1142=
NM_025099.5:c.3425T= NP_079375.3:p.Leu1142=
NR_046431.1:n.3314T=
NR_046431.2:n.3275T=
ENST00000315684.12:c.3425T= ENSP00000313759.8:p.Leu1142=
ENST00000449476.6:c.*159T= ENSP00000396018.2:n.*159T=
ENST00000449476.7:c.*159T= ENSP00000396018.2:n.*159T=
ENST00000580299.1:c.332T= ENSP00000462607.1:p.Leu111=
ENST00000580299.2:c.3161T= ENSP00000462607.2:p.Leu1054=
ENST00000581671.2:n.3414T=
ENST00000581729.1:c.142T=
ENST00000581729.2:c.3194T= ENSP00000462720.2:p.Leu1065=
ENST00000643543.1:c.*2132T= ENSP00000494323.1:n.*2132T=
ENST00000699849.1:c.2297T= ENSP00000514647.1:p.Leu766=
ENST00000699850.1:n.3357T=
ENST00000699851.1:n.4311T=
ENST00000699852.1:c.*1938T= ENSP00000514648.1:n.*1938T=
ENST00000699853.1:c.*10T= ENSP00000514649.1:n.*10T=
ENST00000699854.1:n.3984T=
ENST00000699855.1:n.4548T=
ENST00000699856.1:c.*376T= ENSP00000514650.1:n.*376T=
ENST00000699857.1:n.4004T=
ENST00000699858.1:c.*2709T= ENSP00000514651.1:n.*2709T=
ENST00000699859.1:c.*161T= ENSP00000514652.1:n.*161T=
ENST00000699860.1:n.2103T=
ENST00000699861.1:n.3888T=
XM_006721577.2:c.3296T= XP_006721640.1:p.Leu1099=
XM_006721577.3:c.3296T= XP_006721640.1:p.Leu1099=
XM_006721578.2:c.3194T= XP_006721641.1:p.Leu1065=
XM_006721578.3:c.3194T= XP_006721641.1:p.Leu1065=
XM_011524010.1:c.3320T= XP_011522312.1:p.Leu1107=
XM_011524010.2:c.3320T= XP_011522312.1:p.Leu1107=
XM_011524011.1:c.2528T= XP_011522313.1:p.Leu843=
XM_011524011.2:c.2528T= XP_011522313.1:p.Leu843=
XR_001752639.1:n.3276T=
XR_001752640.1:n.3424T=
XR_001752641.1:n.3359T=
XR_001752642.1:n.3209T=
XR_002958073.1:n.3715T=
XR_429823.2:n.3302T=
XR_429823.3:n.3302T=
XR_429824.2:n.3403T=
XR_429824.3:n.3403T=