Canonical Allele Identifier: CA8371929

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8229942C>T , CM000679.2:g.8229942C>T	GRCh38
NC_000017.10:g.8133260C>T , CM000679.1:g.8133260C>T	GRCh37
NC_000017.9:g.8073985C>T	NCBI36
NG_032148.1:g.23154G>A
NG_032148.2:g.23154G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.2960G>A MANE Select	NP_079375.3:p.Arg987Gln
ENST00000651323.1:c.2960G>A MANE Select	ENSP00000498499.1:p.Arg987Gln
NM_025099.5:c.2960G>A	NP_079375.3:p.Arg987Gln
NR_046431.1:n.2914G>A
NR_046431.2:n.2875G>A
ENST00000315684.12:c.2960G>A	ENSP00000313759.8:p.Arg987Gln
ENST00000449476.6:c.2855G>A	ENSP00000396018.2:p.Arg952Gln
ENST00000449476.7:c.2855G>A	ENSP00000396018.2:p.Arg952Gln
ENST00000578240.1:n.1513G>A
ENST00000578441.5:n.337-20G>A
ENST00000578537.1:c.636-20G>A
ENST00000580299.1:c.131G>A	ENSP00000462607.1:p.Arg44Gln
ENST00000580299.2:c.2960G>A	ENSP00000462607.2:p.Arg987Gln
ENST00000581671.2:n.2949G>A
ENST00000581729.2:c.2960G>A	ENSP00000462720.2:p.Arg987Gln
ENST00000581967.2:n.3412G>A
ENST00000583254.2:n.4958G>A
ENST00000643543.1:c.*1667G>A	ENSP00000494323.1:n.*1667G>A
ENST00000699849.1:c.2063G>A	ENSP00000514647.1:p.Arg688Gln
ENST00000699850.1:n.2548G>A
ENST00000699851.1:n.3307G>A
ENST00000699852.1:c.*1538G>A	ENSP00000514648.1:n.*1538G>A
ENST00000699853.1:c.2960G>A	ENSP00000514649.1:p.Arg987Gln
ENST00000699854.1:n.3078G>A
ENST00000699855.1:n.3737G>A
ENST00000699856.1:c.2934-20G>A	ENSP00000514650.1:n.2934-20G>A
ENST00000699857.1:n.3195G>A
ENST00000699858.1:c.*1898G>A	ENSP00000514651.1:n.*1898G>A
ENST00000699859.1:c.2831G>A	ENSP00000514652.1:p.Arg944Gln
ENST00000699860.1:n.1197G>A
ENST00000699861.1:n.2982G>A
ENST00000699862.1:n.4245G>A
XM_006721577.2:c.2831G>A	XP_006721640.1:p.Arg944Gln
XM_006721577.3:c.2831G>A	XP_006721640.1:p.Arg944Gln
XM_006721578.2:c.2960G>A	XP_006721641.1:p.Arg987Gln
XM_006721578.3:c.2960G>A	XP_006721641.1:p.Arg987Gln
XM_006721579.2:c.2934-20G>A	XP_006721642.1:n.2934-20G>A
XM_011524010.1:c.2855G>A	XP_011522312.1:p.Arg952Gln
XM_011524010.2:c.2855G>A	XP_011522312.1:p.Arg952Gln
XM_011524011.1:c.2063G>A	XP_011522313.1:p.Arg688Gln
XM_011524011.2:c.2063G>A	XP_011522313.1:p.Arg688Gln
XR_001752639.1:n.2874G>A
XR_001752640.1:n.2977-20G>A
XR_001752641.1:n.2977-20G>A
XR_001752642.1:n.2809G>A
XR_001752643.1:n.3433G>A
XR_002958073.1:n.2809G>A
XR_429823.2:n.3003G>A
XR_429823.3:n.3003G>A
XR_429824.2:n.3003G>A
XR_429824.3:n.3003G>A
XR_429825.1:n.2809G>A