Canonical Allele Identifier: CA397989199
Community Standard Title: NM_025099.6(CTC1):c.802C>T (p.Gln268Ter)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8236333G>A , CM000679.2:g.8236333G>A GRCh38
NC_000017.10:g.8139651G>A , CM000679.1:g.8139651G>A GRCh37
NC_000017.9:g.8080376G>A NCBI36
NG_032148.1:g.16763C>T
NG_032148.2:g.16763C>T

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.802C>T MANE Select NP_079375.3:p.Gln268Ter
ENST00000651323.1:c.802C>T MANE Select ENSP00000498499.1:p.Gln268Ter
NM_025099.5:c.802C>T NP_079375.3:p.Gln268Ter
NR_046431.1:n.756C>T
NR_046431.2:n.717C>T
ENST00000315684.12:c.802C>T ENSP00000313759.8:p.Gln268Ter
ENST00000449476.6:c.697C>T ENSP00000396018.2:p.Gln233Ter
ENST00000449476.7:c.697C>T ENSP00000396018.2:p.Gln233Ter
ENST00000580299.2:c.802C>T ENSP00000462607.2:p.Gln268Ter
ENST00000581671.1:n.643C>T
ENST00000581671.2:n.643C>T
ENST00000581729.2:c.802C>T ENSP00000462720.2:p.Gln268Ter
ENST00000581967.2:n.824C>T
ENST00000583254.2:n.216C>T
ENST00000643543.1:c.802C>T ENSP00000494323.1:p.Gln268Ter
ENST00000699849.1:c.-96C>T ENSP00000514647.1:n.-96C>T
ENST00000699850.1:n.65C>T
ENST00000699851.1:n.824C>T
ENST00000699852.1:c.802C>T ENSP00000514648.1:p.Gln268Ter
ENST00000699853.1:c.802C>T ENSP00000514649.1:p.Gln268Ter
ENST00000699854.1:n.595C>T
ENST00000699855.1:n.824C>T
ENST00000699856.1:c.802C>T ENSP00000514650.1:p.Gln268Ter
ENST00000699857.1:n.810C>T
ENST00000699858.1:c.802C>T ENSP00000514651.1:p.Gln268Ter
ENST00000699859.1:c.802C>T ENSP00000514652.1:p.Gln268Ter
ENST00000699861.1:n.824C>T
ENST00000699862.1:n.689C>T
XM_006721577.2:c.802C>T XP_006721640.1:p.Gln268Ter
XM_006721577.3:c.802C>T XP_006721640.1:p.Gln268Ter
XM_006721578.2:c.802C>T XP_006721641.1:p.Gln268Ter
XM_006721578.3:c.802C>T XP_006721641.1:p.Gln268Ter
XM_006721579.2:c.802C>T XP_006721642.1:p.Gln268Ter
XM_011524010.1:c.697C>T XP_011522312.1:p.Gln233Ter
XM_011524010.2:c.697C>T XP_011522312.1:p.Gln233Ter
XM_011524011.1:c.-96C>T XP_011522313.1:n.-96C>T
XM_011524011.2:c.-96C>T XP_011522313.1:n.-96C>T
XR_001752639.1:n.845C>T
XR_001752640.1:n.845C>T
XR_001752641.1:n.845C>T
XR_001752642.1:n.845C>T
XR_001752643.1:n.845C>T
XR_001752644.1:n.845C>T
XR_002958073.1:n.845C>T
XR_429823.2:n.845C>T
XR_429823.3:n.845C>T
XR_429824.2:n.845C>T
XR_429824.3:n.845C>T
XR_429825.1:n.845C>T