Canonical Allele Identifier: CA397979586
Community Standard Title: NM_025099.6(CTC1):c.2029A>G (p.Met677Val)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8232392T>C , CM000679.2:g.8232392T>C GRCh38
NC_000017.10:g.8135710T>C , CM000679.1:g.8135710T>C GRCh37
NC_000017.9:g.8076435T>C NCBI36
NG_032148.1:g.20704A>G
NG_032148.2:g.20704A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.2029A>G MANE Select NP_079375.3:p.Met677Val
ENST00000651323.1:c.2029A>G MANE Select ENSP00000498499.1:p.Met677Val
NM_025099.5:c.2029A>G NP_079375.3:p.Met677Val
NR_046431.1:n.1983A>G
NR_046431.2:n.1944A>G
ENST00000315684.12:c.2029A>G ENSP00000313759.8:p.Met677Val
ENST00000449476.6:c.1924A>G ENSP00000396018.2:p.Met642Val
ENST00000449476.7:c.1924A>G ENSP00000396018.2:p.Met642Val
ENST00000578240.1:n.257A>G
ENST00000580299.2:c.2029A>G ENSP00000462607.2:p.Met677Val
ENST00000581671.2:n.2018A>G
ENST00000581729.2:c.2029A>G ENSP00000462720.2:p.Met677Val
ENST00000581967.2:n.2481A>G
ENST00000583254.2:n.2735A>G
ENST00000643543.1:c.*736A>G ENSP00000494323.1:n.*736A>G
ENST00000699849.1:c.1132A>G ENSP00000514647.1:p.Met378Val
ENST00000699850.1:n.1292A>G
ENST00000699851.1:n.2051A>G
ENST00000699852.1:c.*705A>G ENSP00000514648.1:n.*705A>G
ENST00000699853.1:c.2029A>G ENSP00000514649.1:p.Met677Val
ENST00000699854.1:n.1822A>G
ENST00000699855.1:n.2481A>G
ENST00000699856.1:c.2029A>G ENSP00000514650.1:p.Met677Val
ENST00000699857.1:n.2037A>G
ENST00000699858.1:c.*642A>G ENSP00000514651.1:n.*642A>G
ENST00000699859.1:c.1900A>G ENSP00000514652.1:p.Met634Val
ENST00000699860.1:n.135A>G
ENST00000699861.1:n.2051A>G
ENST00000699862.1:n.2989A>G
XM_006721577.2:c.1900A>G XP_006721640.1:p.Met634Val
XM_006721577.3:c.1900A>G XP_006721640.1:p.Met634Val
XM_006721578.2:c.2029A>G XP_006721641.1:p.Met677Val
XM_006721578.3:c.2029A>G XP_006721641.1:p.Met677Val
XM_006721579.2:c.2029A>G XP_006721642.1:p.Met677Val
XM_011524010.1:c.1924A>G XP_011522312.1:p.Met642Val
XM_011524010.2:c.1924A>G XP_011522312.1:p.Met642Val
XM_011524011.1:c.1132A>G XP_011522313.1:p.Met378Val
XM_011524011.2:c.1132A>G XP_011522313.1:p.Met378Val
XR_001752639.1:n.1943A>G
XR_001752640.1:n.2072A>G
XR_001752641.1:n.2072A>G
XR_001752642.1:n.2072A>G
XR_001752643.1:n.2502A>G
XR_002958073.1:n.2072A>G
XR_429823.2:n.2072A>G
XR_429823.3:n.2072A>G
XR_429824.2:n.2072A>G
XR_429824.3:n.2072A>G
XR_429825.1:n.2072A>G