Canonical Allele Identifier: CA8371718
Community Standard Title: NM_025099.6(CTC1):c.3532C>T (p.Arg1178Ter)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228302G>A , CM000679.2:g.8228302G>A GRCh38
NC_000017.10:g.8131620G>A , CM000679.1:g.8131620G>A GRCh37
NC_000017.9:g.8072345G>A NCBI36
NG_032148.1:g.24794C>T
NG_032148.2:g.24794C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3532C>T MANE Select NP_079375.3:p.Arg1178Ter
ENST00000651323.1:c.3532C>T MANE Select ENSP00000498499.1:p.Arg1178Ter
NM_025099.5:c.3532C>T NP_079375.3:p.Arg1178Ter
NR_046431.1:n.3421C>T
NR_046431.2:n.3382C>T
ENST00000315684.12:c.3532C>T ENSP00000313759.8:p.Arg1178Ter
ENST00000449476.6:c.*266C>T ENSP00000396018.2:n.*266C>T
ENST00000449476.7:c.*266C>T ENSP00000396018.2:n.*266C>T
ENST00000580299.2:c.3268C>T ENSP00000462607.2:p.Arg1090Ter
ENST00000581671.2:n.3521C>T
ENST00000581729.1:c.249C>T
ENST00000581729.2:c.3301C>T ENSP00000462720.2:p.Arg1101Ter
ENST00000643543.1:c.*2239C>T ENSP00000494323.1:n.*2239C>T
ENST00000699849.1:c.2404C>T ENSP00000514647.1:p.Arg802Ter
ENST00000699850.1:n.3464C>T
ENST00000699851.1:n.4418C>T
ENST00000699852.1:c.*2045C>T ENSP00000514648.1:n.*2045C>T
ENST00000699853.1:c.*117C>T ENSP00000514649.1:n.*117C>T
ENST00000699854.1:n.4091C>T
ENST00000699855.1:n.4655C>T
ENST00000699856.1:c.*483C>T ENSP00000514650.1:n.*483C>T
ENST00000699857.1:n.4111C>T
ENST00000699858.1:c.*2816C>T ENSP00000514651.1:n.*2816C>T
ENST00000699859.1:c.*268C>T ENSP00000514652.1:n.*268C>T
ENST00000699860.1:n.2210C>T
ENST00000699861.1:n.3995C>T
XM_006721577.2:c.3403C>T XP_006721640.1:p.Arg1135Ter
XM_006721577.3:c.3403C>T XP_006721640.1:p.Arg1135Ter
XM_006721578.2:c.3301C>T XP_006721641.1:p.Arg1101Ter
XM_006721578.3:c.3301C>T XP_006721641.1:p.Arg1101Ter
XM_011524010.1:c.3427C>T XP_011522312.1:p.Arg1143Ter
XM_011524010.2:c.3427C>T XP_011522312.1:p.Arg1143Ter
XM_011524011.1:c.2635C>T XP_011522313.1:p.Arg879Ter
XM_011524011.2:c.2635C>T XP_011522313.1:p.Arg879Ter
XR_001752639.1:n.3383C>T
XR_001752640.1:n.3531C>T
XR_001752641.1:n.3466C>T
XR_001752642.1:n.3316C>T
XR_002958073.1:n.3822C>T
XR_429823.2:n.3409C>T
XR_429823.3:n.3409C>T
XR_429824.2:n.3510C>T
XR_429824.3:n.3510C>T