Canonical Allele Identifier: CA8371927

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8229929A>G , CM000679.2:g.8229929A>G	GRCh38
NC_000017.10:g.8133247A>G , CM000679.1:g.8133247A>G	GRCh37
NC_000017.9:g.8073972A>G	NCBI36
NG_032148.1:g.23167T>C
NG_032148.2:g.23167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2973T>C	ENSP00000462607.2:p.Tyr991=
ENST00000581729.2:c.2973T>C	ENSP00000462720.2:p.Tyr991=
ENST00000581967.2:n.3425T>C
ENST00000583254.2:n.4971T>C
ENST00000699849.1:c.2076T>C	ENSP00000514647.1:p.Tyr692=
ENST00000699850.1:n.2561T>C
ENST00000699851.1:n.3320T>C
ENST00000699852.1:c.*1551T>C	ENSP00000514648.1:n.*1551T>C
ENST00000699853.1:c.2973T>C	ENSP00000514649.1:p.Tyr991=
ENST00000699854.1:n.3091T>C
ENST00000699855.1:n.3750T>C
ENST00000699856.1:c.2934-7T>C	ENSP00000514650.1:n.2934-7T>C
ENST00000699857.1:n.3208T>C
ENST00000699858.1:c.*1911T>C	ENSP00000514651.1:n.*1911T>C
ENST00000699859.1:c.2844T>C	ENSP00000514652.1:p.Tyr948=
ENST00000699860.1:n.1210T>C
ENST00000699861.1:n.2995T>C
ENST00000699862.1:n.4258T>C
ENST00000449476.7:c.2868T>C	ENSP00000396018.2:p.Tyr956=
ENST00000581671.2:n.2962T>C
ENST00000643543.1:c.*1680T>C	ENSP00000494323.1:n.*1680T>C
ENST00000651323.1:c.2973T>C MANE Select	ENSP00000498499.1:p.Tyr991=
ENST00000315684.12:c.2973T>C	ENSP00000313759.8:p.Tyr991=
ENST00000449476.6:c.2868T>C	ENSP00000396018.2:p.Tyr956=
ENST00000578240.1:n.1526T>C
ENST00000578441.5:n.337-7T>C
ENST00000578537.1:c.636-7T>C
ENST00000580299.1:c.144T>C	ENSP00000462607.1:p.Tyr48=
NM_025099.5:c.2973T>C	NP_079375.3:p.Tyr991=
NR_046431.1:n.2927T>C
XM_006721577.2:c.2844T>C	XP_006721640.1:p.Tyr948=
XM_006721578.2:c.2973T>C	XP_006721641.1:p.Tyr991=
XM_006721579.2:c.2934-7T>C	XP_006721642.1:n.2934-7T>C
XM_011524010.1:c.2868T>C	XP_011522312.1:p.Tyr956=
XM_011524011.1:c.2076T>C	XP_011522313.1:p.Tyr692=
XR_429823.2:n.3016T>C
XR_429824.2:n.3016T>C
XR_429825.1:n.2822T>C
NM_025099.6:c.2973T>C MANE Select	NP_079375.3:p.Tyr991=
XM_006721577.3:c.2844T>C	XP_006721640.1:p.Tyr948=
XM_006721578.3:c.2973T>C	XP_006721641.1:p.Tyr991=
XM_011524010.2:c.2868T>C	XP_011522312.1:p.Tyr956=
XM_011524011.2:c.2076T>C	XP_011522313.1:p.Tyr692=
XR_001752639.1:n.2887T>C
XR_001752640.1:n.2977-7T>C
XR_001752641.1:n.2977-7T>C
XR_001752642.1:n.2822T>C
XR_001752643.1:n.3446T>C
XR_002958073.1:n.2822T>C
XR_429823.3:n.3016T>C
XR_429824.3:n.3016T>C
NR_046431.2:n.2888T>C