Canonical Allele Identifier: CA397980413

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232933G>A , CM000679.2:g.8232933G>A	GRCh38
NC_000017.10:g.8136251G>A , CM000679.1:g.8136251G>A	GRCh37
NC_000017.9:g.8076976G>A	NCBI36
NG_032148.1:g.20163C>T
NG_032148.2:g.20163C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.1918C>T MANE Select	NP_079375.3:p.Gln640Ter
ENST00000651323.1:c.1918C>T MANE Select	ENSP00000498499.1:p.Gln640Ter
NM_025099.5:c.1918C>T	NP_079375.3:p.Gln640Ter
NR_046431.1:n.1872C>T
NR_046431.2:n.1833C>T
ENST00000315684.12:c.1918C>T	ENSP00000313759.8:p.Gln640Ter
ENST00000449476.6:c.1813C>T	ENSP00000396018.2:p.Gln605Ter
ENST00000449476.7:c.1813C>T	ENSP00000396018.2:p.Gln605Ter
ENST00000580299.2:c.1918C>T	ENSP00000462607.2:p.Gln640Ter
ENST00000581671.2:n.1907C>T
ENST00000581729.2:c.1918C>T	ENSP00000462720.2:p.Gln640Ter
ENST00000581967.1:n.321C>T
ENST00000581967.2:n.1940C>T
ENST00000583254.1:n.448C>T
ENST00000583254.2:n.2194C>T
ENST00000643543.1:c.*625C>T	ENSP00000494323.1:n.*625C>T
ENST00000699849.1:c.1021C>T	ENSP00000514647.1:p.Gln341Ter
ENST00000699850.1:n.1181C>T
ENST00000699851.1:n.1940C>T
ENST00000699852.1:c.*164C>T	ENSP00000514648.1:n.*164C>T
ENST00000699853.1:c.1918C>T	ENSP00000514649.1:p.Gln640Ter
ENST00000699854.1:n.1711C>T
ENST00000699855.1:n.1940C>T
ENST00000699856.1:c.1918C>T	ENSP00000514650.1:p.Gln640Ter
ENST00000699857.1:n.1926C>T
ENST00000699858.1:c.*531C>T	ENSP00000514651.1:n.*531C>T
ENST00000699859.1:c.1789C>T	ENSP00000514652.1:p.Gln597Ter
ENST00000699860.1:n.24C>T
ENST00000699861.1:n.1940C>T
ENST00000699862.1:n.2448C>T
XM_006721577.2:c.1789C>T	XP_006721640.1:p.Gln597Ter
XM_006721577.3:c.1789C>T	XP_006721640.1:p.Gln597Ter
XM_006721578.2:c.1918C>T	XP_006721641.1:p.Gln640Ter
XM_006721578.3:c.1918C>T	XP_006721641.1:p.Gln640Ter
XM_006721579.2:c.1918C>T	XP_006721642.1:p.Gln640Ter
XM_011524010.1:c.1813C>T	XP_011522312.1:p.Gln605Ter
XM_011524010.2:c.1813C>T	XP_011522312.1:p.Gln605Ter
XM_011524011.1:c.1021C>T	XP_011522313.1:p.Gln341Ter
XM_011524011.2:c.1021C>T	XP_011522313.1:p.Gln341Ter
XR_001752639.1:n.1832C>T
XR_001752640.1:n.1961C>T
XR_001752641.1:n.1961C>T
XR_001752642.1:n.1961C>T
XR_001752643.1:n.1961C>T
XR_001752644.1:n.1961C>T
XR_002958073.1:n.1961C>T
XR_429823.2:n.1961C>T
XR_429823.3:n.1961C>T
XR_429824.2:n.1961C>T
XR_429824.3:n.1961C>T
XR_429825.1:n.1961C>T