Canonical Allele Identifier: CA2246176220
Community Standard Title: NM_025099.6(CTC1):c.1994T= (p.Val665=)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8232427A= , CM000679.2:g.8232427A= GRCh38
NC_000017.10:g.8135745A= , CM000679.1:g.8135745A= GRCh37
NC_000017.9:g.8076470A= NCBI36
NG_032148.1:g.20669T=
NG_032148.2:g.20669T=

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.1994T= MANE Select NP_079375.3:p.Val665=
ENST00000651323.1:c.1994T= MANE Select ENSP00000498499.1:p.Val665=
NM_025099.5:c.1994T= NP_079375.3:p.Val665=
NR_046431.1:n.1948T=
NR_046431.2:n.1909T=
ENST00000315684.12:c.1994T= ENSP00000313759.8:p.Val665=
ENST00000449476.6:c.1889T= ENSP00000396018.2:p.Val630=
ENST00000449476.7:c.1889T= ENSP00000396018.2:p.Val630=
ENST00000578240.1:n.222T=
ENST00000580299.2:c.1994T= ENSP00000462607.2:p.Val665=
ENST00000581671.2:n.1983T=
ENST00000581729.2:c.1994T= ENSP00000462720.2:p.Val665=
ENST00000581967.2:n.2446T=
ENST00000583254.2:n.2700T=
ENST00000643543.1:c.*701T= ENSP00000494323.1:n.*701T=
ENST00000699849.1:c.1097T= ENSP00000514647.1:p.Val366=
ENST00000699850.1:n.1257T=
ENST00000699851.1:n.2016T=
ENST00000699852.1:c.*670T= ENSP00000514648.1:n.*670T=
ENST00000699853.1:c.1994T= ENSP00000514649.1:p.Val665=
ENST00000699854.1:n.1787T=
ENST00000699855.1:n.2446T=
ENST00000699856.1:c.1994T= ENSP00000514650.1:p.Val665=
ENST00000699857.1:n.2002T=
ENST00000699858.1:c.*607T= ENSP00000514651.1:n.*607T=
ENST00000699859.1:c.1865T= ENSP00000514652.1:p.Val622=
ENST00000699860.1:n.100T=
ENST00000699861.1:n.2016T=
ENST00000699862.1:n.2954T=
XM_006721577.2:c.1865T= XP_006721640.1:p.Val622=
XM_006721577.3:c.1865T= XP_006721640.1:p.Val622=
XM_006721578.2:c.1994T= XP_006721641.1:p.Val665=
XM_006721578.3:c.1994T= XP_006721641.1:p.Val665=
XM_006721579.2:c.1994T= XP_006721642.1:p.Val665=
XM_011524010.1:c.1889T= XP_011522312.1:p.Val630=
XM_011524010.2:c.1889T= XP_011522312.1:p.Val630=
XM_011524011.1:c.1097T= XP_011522313.1:p.Val366=
XM_011524011.2:c.1097T= XP_011522313.1:p.Val366=
XR_001752639.1:n.1908T=
XR_001752640.1:n.2037T=
XR_001752641.1:n.2037T=
XR_001752642.1:n.2037T=
XR_001752643.1:n.2467T=
XR_001752644.1:n.2323T=
XR_002958073.1:n.2037T=
XR_429823.2:n.2037T=
XR_429823.3:n.2037T=
XR_429824.2:n.2037T=
XR_429824.3:n.2037T=
XR_429825.1:n.2037T=