Canonical Allele Identifier: CA397968817

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228608G>A , CM000679.2:g.8228608G>A	GRCh38
NC_000017.10:g.8131926G>A , CM000679.1:g.8131926G>A	GRCh37
NC_000017.9:g.8072651G>A	NCBI36
NG_032148.1:g.24488C>T
NG_032148.2:g.24488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3145C>T	ENSP00000462607.2:p.Pro1049Ser
ENST00000581729.2:c.3178C>T	ENSP00000462720.2:p.Pro1060Ser
ENST00000699849.1:c.2281C>T	ENSP00000514647.1:p.Pro761Ser
ENST00000699850.1:n.3341C>T
ENST00000699851.1:n.4295C>T
ENST00000699852.1:c.*1922C>T	ENSP00000514648.1:n.*1922C>T
ENST00000699853.1:c.3243C>T	ENSP00000514649.1:p.Ser1081=
ENST00000699854.1:n.3968C>T
ENST00000699855.1:n.4532C>T
ENST00000699856.1:c.*360C>T	ENSP00000514650.1:n.*360C>T
ENST00000699857.1:n.3988C>T
ENST00000699858.1:c.*2693C>T	ENSP00000514651.1:n.*2693C>T
ENST00000699859.1:c.*145C>T	ENSP00000514652.1:n.*145C>T
ENST00000699860.1:n.2087C>T
ENST00000699861.1:n.3872C>T
ENST00000449476.7:c.*143C>T	ENSP00000396018.2:n.*143C>T
ENST00000581671.2:n.3398C>T
ENST00000643543.1:c.*2116C>T	ENSP00000494323.1:n.*2116C>T
ENST00000651323.1:c.3409C>T MANE Select	ENSP00000498499.1:p.Pro1137Ser
ENST00000315684.12:c.3409C>T	ENSP00000313759.8:p.Pro1137Ser
ENST00000449476.6:c.*143C>T	ENSP00000396018.2:n.*143C>T
ENST00000580299.1:c.316C>T	ENSP00000462607.1:p.Pro106Ser
ENST00000581729.1:c.126C>T
NM_025099.5:c.3409C>T	NP_079375.3:p.Pro1137Ser
NR_046431.1:n.3298C>T
XM_006721577.2:c.3280C>T	XP_006721640.1:p.Pro1094Ser
XM_006721578.2:c.3178C>T	XP_006721641.1:p.Pro1060Ser
XM_011524010.1:c.3304C>T	XP_011522312.1:p.Pro1102Ser
XM_011524011.1:c.2512C>T	XP_011522313.1:p.Pro838Ser
XR_429823.2:n.3286C>T
XR_429824.2:n.3387C>T
NM_025099.6:c.3409C>T MANE Select	NP_079375.3:p.Pro1137Ser
XM_006721577.3:c.3280C>T	XP_006721640.1:p.Pro1094Ser
XM_006721578.3:c.3178C>T	XP_006721641.1:p.Pro1060Ser
XM_011524010.2:c.3304C>T	XP_011522312.1:p.Pro1102Ser
XM_011524011.2:c.2512C>T	XP_011522313.1:p.Pro838Ser
XR_001752639.1:n.3260C>T
XR_001752640.1:n.3408C>T
XR_001752641.1:n.3343C>T
XR_001752642.1:n.3193C>T
XR_002958073.1:n.3699C>T
XR_429823.3:n.3286C>T
XR_429824.3:n.3387C>T
NR_046431.2:n.3259C>T