Canonical Allele Identifier: CA497782034
Gene: CTC1 HGNC NCBI

Linked Data

dbSNP Id: rs1403662852
MyVariant Identifiers: chr17:g.8140720A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8237402A>C , CM000679.2:g.8237402A>C GRCh38
NC_000017.10:g.8140720A>C , CM000679.1:g.8140720A>C GRCh37
NC_000017.9:g.8081445A>C NCBI36
NG_032148.1:g.15694T>G
NG_032148.2:g.15694T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000580299.2:c.765T>G ENSP00000462607.2:p.Ala255=
ENST00000581729.2:c.765T>G ENSP00000462720.2:p.Ala255=
ENST00000581967.2:n.787T>G
ENST00000583254.2:n.179T>G
ENST00000699849.1:c.-133T>G ENSP00000514647.1:n.-133T>G
ENST00000699850.1:n.56-1060T>G
ENST00000699851.1:n.787T>G
ENST00000699852.1:c.765T>G ENSP00000514648.1:p.Ala255=
ENST00000699853.1:c.765T>G ENSP00000514649.1:p.Ala255=
ENST00000699854.1:n.558T>G
ENST00000699855.1:n.787T>G
ENST00000699856.1:c.765T>G ENSP00000514650.1:p.Ala255=
ENST00000699857.1:n.773T>G
ENST00000699858.1:c.765T>G ENSP00000514651.1:p.Ala255=
ENST00000699859.1:c.765T>G ENSP00000514652.1:p.Ala255=
ENST00000699861.1:n.787T>G
ENST00000699862.1:n.652T>G
ENST00000449476.7:c.660T>G ENSP00000396018.2:p.Ala220=
ENST00000581671.2:n.606T>G
ENST00000643543.1:c.765T>G ENSP00000494323.1:p.Ala255=
ENST00000651323.1:c.765T>G MANE Select ENSP00000498499.1:p.Ala255=
ENST00000315684.12:c.765T>G ENSP00000313759.8:p.Ala255=
ENST00000449476.6:c.660T>G ENSP00000396018.2:p.Ala220=
ENST00000581671.1:n.606T>G
NM_025099.5:c.765T>G NP_079375.3:p.Ala255=
NR_046431.1:n.719T>G
XM_006721577.2:c.765T>G XP_006721640.1:p.Ala255=
XM_006721578.2:c.765T>G XP_006721641.1:p.Ala255=
XM_006721579.2:c.765T>G XP_006721642.1:p.Ala255=
XM_011524010.1:c.660T>G XP_011522312.1:p.Ala220=
XM_011524011.1:c.-137T>G XP_011522313.1:n.-137T>G
XR_429823.2:n.808T>G
XR_429824.2:n.808T>G
XR_429825.1:n.808T>G
NM_025099.6:c.765T>G MANE Select NP_079375.3:p.Ala255=
XM_006721577.3:c.765T>G XP_006721640.1:p.Ala255=
XM_006721578.3:c.765T>G XP_006721641.1:p.Ala255=
XM_011524010.2:c.660T>G XP_011522312.1:p.Ala220=
XM_011524011.2:c.-137T>G XP_011522313.1:n.-137T>G
XR_001752639.1:n.808T>G
XR_001752640.1:n.808T>G
XR_001752641.1:n.808T>G
XR_001752642.1:n.808T>G
XR_001752643.1:n.808T>G
XR_001752644.1:n.808T>G
XR_002958073.1:n.808T>G
XR_429823.3:n.808T>G
XR_429824.3:n.808T>G
NR_046431.2:n.680T>G