Canonical Allele Identifier: CA8371805
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228774G>A , CM000679.2:g.8228774G>A GRCh38
NC_000017.10:g.8132092G>A , CM000679.1:g.8132092G>A GRCh37
NC_000017.9:g.8072817G>A NCBI36
NG_032148.1:g.24322C>T
NG_032148.2:g.24322C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3340C>T MANE Select NP_079375.3:p.Pro1114Ser
ENST00000651323.1:c.3340C>T MANE Select ENSP00000498499.1:p.Pro1114Ser
NM_025099.5:c.3340C>T NP_079375.3:p.Pro1114Ser
NR_046431.1:n.3229C>T
NR_046431.2:n.3190C>T
ENST00000315684.12:c.3340C>T ENSP00000313759.8:p.Pro1114Ser
ENST00000449476.6:c.*74C>T ENSP00000396018.2:n.*74C>T
ENST00000449476.7:c.*74C>T ENSP00000396018.2:n.*74C>T
ENST00000580299.1:c.295-145C>T ENSP00000462607.1:n.295-145C>T
ENST00000580299.2:c.3124-145C>T ENSP00000462607.2:n.3124-145C>T
ENST00000581671.2:n.3329C>T
ENST00000581729.1:c.105-145C>T
ENST00000581729.2:c.3157-145C>T ENSP00000462720.2:n.3157-145C>T
ENST00000581967.2:n.3727C>T
ENST00000643543.1:c.*2047C>T ENSP00000494323.1:n.*2047C>T
ENST00000699849.1:c.2260-145C>T ENSP00000514647.1:n.2260-145C>T
ENST00000699850.1:n.3272C>T
ENST00000699851.1:n.4226C>T
ENST00000699852.1:c.*1853C>T ENSP00000514648.1:n.*1853C>T
ENST00000699853.1:c.3222-145C>T ENSP00000514649.1:n.3222-145C>T
ENST00000699854.1:n.3802C>T
ENST00000699855.1:n.4366C>T
ENST00000699856.1:c.*289C>T ENSP00000514650.1:n.*289C>T
ENST00000699857.1:n.3919C>T
ENST00000699858.1:c.*2622C>T ENSP00000514651.1:n.*2622C>T
ENST00000699859.1:c.*74C>T ENSP00000514652.1:n.*74C>T
ENST00000699860.1:n.1921C>T
ENST00000699861.1:n.3706C>T
XM_006721577.2:c.3211C>T XP_006721640.1:p.Pro1071Ser
XM_006721577.3:c.3211C>T XP_006721640.1:p.Pro1071Ser
XM_006721578.2:c.3157-145C>T XP_006721641.1:n.3157-145C>T
XM_006721578.3:c.3157-145C>T XP_006721641.1:n.3157-145C>T
XM_011524010.1:c.3235C>T XP_011522312.1:p.Pro1079Ser
XM_011524010.2:c.3235C>T XP_011522312.1:p.Pro1079Ser
XM_011524011.1:c.2443C>T XP_011522313.1:p.Pro815Ser
XM_011524011.2:c.2443C>T XP_011522313.1:p.Pro815Ser
XR_001752639.1:n.3189C>T
XR_001752640.1:n.3337C>T
XR_001752641.1:n.3272C>T
XR_001752642.1:n.3124C>T
XR_001752643.1:n.3748C>T
XR_002958073.1:n.3533C>T
XR_429823.2:n.3265-145C>T
XR_429823.3:n.3265-145C>T
XR_429824.2:n.3318C>T
XR_429824.3:n.3318C>T