Canonical Allele Identifier: CA129613

Gene: CTC1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228592A>T , CM000679.2:g.8228592A>T	GRCh38
NC_000017.10:g.8131910A>T , CM000679.1:g.8131910A>T	GRCh37
NC_000017.9:g.8072635A>T	NCBI36
NG_032148.1:g.24504T>A
NG_032148.2:g.24504T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3161T>A	ENSP00000462607.2:p.Leu1054His
ENST00000581729.2:c.3194T>A	ENSP00000462720.2:p.Leu1065His
ENST00000699849.1:c.2297T>A	ENSP00000514647.1:p.Leu766His
ENST00000699850.1:n.3357T>A
ENST00000699851.1:n.4311T>A
ENST00000699852.1:c.*1938T>A	ENSP00000514648.1:n.*1938T>A
ENST00000699853.1:c.*10T>A	ENSP00000514649.1:n.*10T>A
ENST00000699854.1:n.3984T>A
ENST00000699855.1:n.4548T>A
ENST00000699856.1:c.*376T>A	ENSP00000514650.1:n.*376T>A
ENST00000699857.1:n.4004T>A
ENST00000699858.1:c.*2709T>A	ENSP00000514651.1:n.*2709T>A
ENST00000699859.1:c.*161T>A	ENSP00000514652.1:n.*161T>A
ENST00000699860.1:n.2103T>A
ENST00000699861.1:n.3888T>A
ENST00000449476.7:c.*159T>A	ENSP00000396018.2:n.*159T>A
ENST00000581671.2:n.3414T>A
ENST00000643543.1:c.*2132T>A	ENSP00000494323.1:n.*2132T>A
ENST00000651323.1:c.3425T>A MANE Select	ENSP00000498499.1:p.Leu1142His
ENST00000315684.12:c.3425T>A	ENSP00000313759.8:p.Leu1142His
ENST00000449476.6:c.*159T>A	ENSP00000396018.2:n.*159T>A
ENST00000580299.1:c.332T>A	ENSP00000462607.1:p.Leu111His
ENST00000581729.1:c.142T>A
NM_025099.5:c.3425T>A	NP_079375.3:p.Leu1142His
NR_046431.1:n.3314T>A
XM_006721577.2:c.3296T>A	XP_006721640.1:p.Leu1099His
XM_006721578.2:c.3194T>A	XP_006721641.1:p.Leu1065His
XM_011524010.1:c.3320T>A	XP_011522312.1:p.Leu1107His
XM_011524011.1:c.2528T>A	XP_011522313.1:p.Leu843His
XR_429823.2:n.3302T>A
XR_429824.2:n.3403T>A
NM_025099.6:c.3425T>A MANE Select	NP_079375.3:p.Leu1142His
XM_006721577.3:c.3296T>A	XP_006721640.1:p.Leu1099His
XM_006721578.3:c.3194T>A	XP_006721641.1:p.Leu1065His
XM_011524010.2:c.3320T>A	XP_011522312.1:p.Leu1107His
XM_011524011.2:c.2528T>A	XP_011522313.1:p.Leu843His
XR_001752639.1:n.3276T>A
XR_001752640.1:n.3424T>A
XR_001752641.1:n.3359T>A
XR_001752642.1:n.3209T>A
XR_002958073.1:n.3715T>A
XR_429823.3:n.3302T>A
XR_429824.3:n.3403T>A
NR_046431.2:n.3275T>A