Canonical Allele Identifier: CA397978464

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135419C>A (hg19) ; chr17:g.8232101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232101C>A , CM000679.2:g.8232101C>A	GRCh38
NC_000017.10:g.8135419C>A , CM000679.1:g.8135419C>A	GRCh37
NC_000017.9:g.8076144C>A	NCBI36
NG_032148.1:g.20995G>T
NG_032148.2:g.20995G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2187G>T	ENSP00000462607.2:p.Gln729His
ENST00000581729.2:c.2187G>T	ENSP00000462720.2:p.Gln729His
ENST00000581967.2:n.2639G>T
ENST00000583254.2:n.2893G>T
ENST00000699849.1:c.1290G>T	ENSP00000514647.1:p.Gln430His
ENST00000699850.1:n.1450G>T
ENST00000699851.1:n.2209G>T
ENST00000699852.1:c.*863G>T	ENSP00000514648.1:n.*863G>T
ENST00000699853.1:c.2187G>T	ENSP00000514649.1:p.Gln729His
ENST00000699854.1:n.1980G>T
ENST00000699855.1:n.2639G>T
ENST00000699856.1:c.2187G>T	ENSP00000514650.1:p.Gln729His
ENST00000699857.1:n.2195G>T
ENST00000699858.1:c.*800G>T	ENSP00000514651.1:n.*800G>T
ENST00000699859.1:c.2058G>T	ENSP00000514652.1:p.Gln686His
ENST00000699860.1:n.293G>T
ENST00000699861.1:n.2209G>T
ENST00000699862.1:n.3147G>T
ENST00000449476.7:c.2082G>T	ENSP00000396018.2:p.Gln694His
ENST00000581671.2:n.2176G>T
ENST00000643543.1:c.*894G>T	ENSP00000494323.1:n.*894G>T
ENST00000651323.1:c.2187G>T MANE Select	ENSP00000498499.1:p.Gln729His
ENST00000315684.12:c.2187G>T	ENSP00000313759.8:p.Gln729His
ENST00000449476.6:c.2082G>T	ENSP00000396018.2:p.Gln694His
ENST00000578240.1:n.415G>T
ENST00000578537.1:c.83G>T
NM_025099.5:c.2187G>T	NP_079375.3:p.Gln729His
NR_046431.1:n.2141G>T
XM_006721577.2:c.2058G>T	XP_006721640.1:p.Gln686His
XM_006721578.2:c.2187G>T	XP_006721641.1:p.Gln729His
XM_006721579.2:c.2187G>T	XP_006721642.1:p.Gln729His
XM_011524010.1:c.2082G>T	XP_011522312.1:p.Gln694His
XM_011524011.1:c.1290G>T	XP_011522313.1:p.Gln430His
XR_429823.2:n.2230G>T
XR_429824.2:n.2230G>T
XR_429825.1:n.2230G>T
NM_025099.6:c.2187G>T MANE Select	NP_079375.3:p.Gln729His
XM_006721577.3:c.2058G>T	XP_006721640.1:p.Gln686His
XM_006721578.3:c.2187G>T	XP_006721641.1:p.Gln729His
XM_011524010.2:c.2082G>T	XP_011522312.1:p.Gln694His
XM_011524011.2:c.1290G>T	XP_011522313.1:p.Gln430His
XR_001752639.1:n.2101G>T
XR_001752640.1:n.2230G>T
XR_001752641.1:n.2230G>T
XR_001752642.1:n.2230G>T
XR_001752643.1:n.2660G>T
XR_002958073.1:n.2230G>T
XR_429823.3:n.2230G>T
XR_429824.3:n.2230G>T
NR_046431.2:n.2102G>T