Canonical Allele Identifier: CA287528440
Community Standard Title: NM_025099.6(CTC1):c.*1052T>G
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8227128A>C , CM000679.2:g.8227128A>C GRCh38
NC_000017.10:g.8130446A>C , CM000679.1:g.8130446A>C GRCh37
NC_000017.9:g.8071171A>C NCBI36
NG_032148.1:g.25968T>G
NG_032148.2:g.25968T>G

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.*1052T>G MANE Select NP_079375.3:n.*1052T>G
ENST00000651323.1:c.*1052T>G MANE Select ENSP00000498499.1:n.*1052T>G
NM_025099.5:c.*1052T>G NP_079375.3:n.*1052T>G
NR_046431.1:n.4595T>G
NR_046431.2:n.4556T>G
ENST00000315684.12:c.*1052T>G ENSP00000313759.8:n.*1052T>G
ENST00000449476.6:c.*1440T>G ENSP00000396018.2:n.*1440T>G
ENST00000449476.7:c.*1440T>G ENSP00000396018.2:n.*1440T>G
ENST00000643543.1:c.*3413T>G ENSP00000494323.1:n.*3413T>G
ENST00000699849.1:c.*1052T>G ENSP00000514647.1:n.*1052T>G
ENST00000699850.1:n.4638T>G
ENST00000699851.1:n.5592T>G
ENST00000699852.1:c.*3219T>G ENSP00000514648.1:n.*3219T>G
ENST00000699853.1:c.*1291T>G ENSP00000514649.1:n.*1291T>G
XM_006721577.2:c.*1052T>G XP_006721640.1:n.*1052T>G
XM_006721577.3:c.*1052T>G XP_006721640.1:n.*1052T>G
XM_006721578.2:c.*1052T>G XP_006721641.1:n.*1052T>G
XM_006721578.3:c.*1052T>G XP_006721641.1:n.*1052T>G
XM_011524010.1:c.*1052T>G XP_011522312.1:n.*1052T>G
XM_011524010.2:c.*1052T>G XP_011522312.1:n.*1052T>G
XM_011524011.1:c.*1052T>G XP_011522313.1:n.*1052T>G
XM_011524011.2:c.*1052T>G XP_011522313.1:n.*1052T>G
XR_001752639.1:n.4557T>G
XR_001752640.1:n.4705T>G
XR_001752641.1:n.4640T>G
XR_001752642.1:n.4490T>G
XR_002958073.1:n.4996T>G
XR_429823.2:n.4583T>G
XR_429823.3:n.4583T>G
XR_429824.2:n.4684T>G
XR_429824.3:n.4684T>G