Canonical Allele Identifier: CA8372440
Community Standard Title: NM_025099.6(CTC1):c.1186C>T (p.Arg396Ter)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8235851G>A , CM000679.2:g.8235851G>A GRCh38
NC_000017.10:g.8139169G>A , CM000679.1:g.8139169G>A GRCh37
NC_000017.9:g.8079894G>A NCBI36
NG_032148.1:g.17245C>T
NG_032148.2:g.17245C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.1186C>T MANE Select NP_079375.3:p.Arg396Ter
ENST00000651323.1:c.1186C>T MANE Select ENSP00000498499.1:p.Arg396Ter
NM_025099.5:c.1186C>T NP_079375.3:p.Arg396Ter
NR_046431.1:n.1140C>T
NR_046431.2:n.1101C>T
ENST00000315684.12:c.1186C>T ENSP00000313759.8:p.Arg396Ter
ENST00000449476.6:c.1081C>T ENSP00000396018.2:p.Arg361Ter
ENST00000449476.7:c.1081C>T ENSP00000396018.2:p.Arg361Ter
ENST00000580299.2:c.1186C>T ENSP00000462607.2:p.Arg396Ter
ENST00000581671.2:n.1027C>T
ENST00000581729.2:c.1186C>T ENSP00000462720.2:p.Arg396Ter
ENST00000581967.2:n.1208C>T
ENST00000583254.2:n.698C>T
ENST00000643543.1:c.1052+232C>T ENSP00000494323.1:n.1052+232C>T
ENST00000699849.1:c.289C>T ENSP00000514647.1:p.Arg97Ter
ENST00000699850.1:n.449C>T
ENST00000699851.1:n.1208C>T
ENST00000699852.1:c.1186C>T ENSP00000514648.1:p.Arg396Ter
ENST00000699853.1:c.1186C>T ENSP00000514649.1:p.Arg396Ter
ENST00000699854.1:n.979C>T
ENST00000699855.1:n.1208C>T
ENST00000699856.1:c.1186C>T ENSP00000514650.1:p.Arg396Ter
ENST00000699857.1:n.1194C>T
ENST00000699858.1:c.1052+232C>T ENSP00000514651.1:n.1052+232C>T
ENST00000699859.1:c.1077+207C>T ENSP00000514652.1:n.1077+207C>T
ENST00000699861.1:n.1208C>T
ENST00000699862.1:n.1073C>T
XM_006721577.2:c.1077+207C>T XP_006721640.1:n.1077+207C>T
XM_006721577.3:c.1077+207C>T XP_006721640.1:n.1077+207C>T
XM_006721578.2:c.1186C>T XP_006721641.1:p.Arg396Ter
XM_006721578.3:c.1186C>T XP_006721641.1:p.Arg396Ter
XM_006721579.2:c.1186C>T XP_006721642.1:p.Arg396Ter
XM_011524010.1:c.1081C>T XP_011522312.1:p.Arg361Ter
XM_011524010.2:c.1081C>T XP_011522312.1:p.Arg361Ter
XM_011524011.1:c.289C>T XP_011522313.1:p.Arg97Ter
XM_011524011.2:c.289C>T XP_011522313.1:p.Arg97Ter
XR_001752639.1:n.1120+207C>T
XR_001752640.1:n.1229C>T
XR_001752641.1:n.1229C>T
XR_001752642.1:n.1229C>T
XR_001752643.1:n.1229C>T
XR_001752644.1:n.1229C>T
XR_002958073.1:n.1229C>T
XR_429823.2:n.1229C>T
XR_429823.3:n.1229C>T
XR_429824.2:n.1229C>T
XR_429824.3:n.1229C>T
XR_429825.1:n.1229C>T