Canonical Allele Identifier: CA8371699
Community Standard Title: NM_025099.6(CTC1):c.3604C>T (p.Arg1202Ter)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228230G>A , CM000679.2:g.8228230G>A GRCh38
NC_000017.10:g.8131548G>A , CM000679.1:g.8131548G>A GRCh37
NC_000017.9:g.8072273G>A NCBI36
NG_032148.1:g.24866C>T
NG_032148.2:g.24866C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3604C>T MANE Select NP_079375.3:p.Arg1202Ter
ENST00000651323.1:c.3604C>T MANE Select ENSP00000498499.1:p.Arg1202Ter
NM_025099.5:c.3604C>T NP_079375.3:p.Arg1202Ter
NR_046431.1:n.3493C>T
NR_046431.2:n.3454C>T
ENST00000315684.12:c.3604C>T ENSP00000313759.8:p.Arg1202Ter
ENST00000449476.6:c.*338C>T ENSP00000396018.2:n.*338C>T
ENST00000449476.7:c.*338C>T ENSP00000396018.2:n.*338C>T
ENST00000580299.2:c.3340C>T ENSP00000462607.2:p.Arg1114Ter
ENST00000581671.2:n.3593C>T
ENST00000581729.1:c.321C>T
ENST00000581729.2:c.3373C>T ENSP00000462720.2:p.Arg1125Ter
ENST00000643543.1:c.*2311C>T ENSP00000494323.1:n.*2311C>T
ENST00000699849.1:c.2476C>T ENSP00000514647.1:p.Arg826Ter
ENST00000699850.1:n.3536C>T
ENST00000699851.1:n.4490C>T
ENST00000699852.1:c.*2117C>T ENSP00000514648.1:n.*2117C>T
ENST00000699853.1:c.*189C>T ENSP00000514649.1:n.*189C>T
ENST00000699854.1:n.4163C>T
ENST00000699855.1:n.4727C>T
ENST00000699856.1:c.*555C>T ENSP00000514650.1:n.*555C>T
ENST00000699857.1:n.4183C>T
ENST00000699858.1:c.*2888C>T ENSP00000514651.1:n.*2888C>T
ENST00000699859.1:c.*340C>T ENSP00000514652.1:n.*340C>T
ENST00000699860.1:n.2282C>T
ENST00000699861.1:n.4067C>T
XM_006721577.2:c.3475C>T XP_006721640.1:p.Arg1159Ter
XM_006721577.3:c.3475C>T XP_006721640.1:p.Arg1159Ter
XM_006721578.2:c.3373C>T XP_006721641.1:p.Arg1125Ter
XM_006721578.3:c.3373C>T XP_006721641.1:p.Arg1125Ter
XM_011524010.1:c.3499C>T XP_011522312.1:p.Arg1167Ter
XM_011524010.2:c.3499C>T XP_011522312.1:p.Arg1167Ter
XM_011524011.1:c.2707C>T XP_011522313.1:p.Arg903Ter
XM_011524011.2:c.2707C>T XP_011522313.1:p.Arg903Ter
XR_001752639.1:n.3455C>T
XR_001752640.1:n.3603C>T
XR_001752641.1:n.3538C>T
XR_001752642.1:n.3388C>T
XR_002958073.1:n.3894C>T
XR_429823.2:n.3481C>T
XR_429823.3:n.3481C>T
XR_429824.2:n.3582C>T
XR_429824.3:n.3582C>T