Canonical Allele Identifier: CA497958714

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135044A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231726A>G , CM000679.2:g.8231726A>G	GRCh38
NC_000017.10:g.8135044A>G , CM000679.1:g.8135044A>G	GRCh37
NC_000017.9:g.8075769A>G	NCBI36
NG_032148.1:g.21370T>C
NG_032148.2:g.21370T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2475T>C	ENSP00000462607.2:p.Ala825=
ENST00000581729.2:c.2475T>C	ENSP00000462720.2:p.Ala825=
ENST00000581967.2:n.2927T>C
ENST00000583254.2:n.3268T>C
ENST00000699849.1:c.1578T>C	ENSP00000514647.1:p.Ala526=
ENST00000699850.1:n.1738T>C
ENST00000699851.1:n.2497T>C
ENST00000699852.1:c.*1151T>C	ENSP00000514648.1:n.*1151T>C
ENST00000699853.1:c.2475T>C	ENSP00000514649.1:p.Ala825=
ENST00000699854.1:n.2268T>C
ENST00000699855.1:n.2927T>C
ENST00000699856.1:c.2475T>C	ENSP00000514650.1:p.Ala825=
ENST00000699857.1:n.2483T>C
ENST00000699858.1:c.*1088T>C	ENSP00000514651.1:n.*1088T>C
ENST00000699859.1:c.2346T>C	ENSP00000514652.1:p.Ala782=
ENST00000699860.1:n.581T>C
ENST00000699861.1:n.2497T>C
ENST00000699862.1:n.3435T>C
ENST00000449476.7:c.2370T>C	ENSP00000396018.2:p.Ala790=
ENST00000581671.2:n.2464T>C
ENST00000643543.1:c.*1182T>C	ENSP00000494323.1:n.*1182T>C
ENST00000651323.1:c.2475T>C MANE Select	ENSP00000498499.1:p.Ala825=
ENST00000315684.12:c.2475T>C	ENSP00000313759.8:p.Ala825=
ENST00000449476.6:c.2370T>C	ENSP00000396018.2:p.Ala790=
ENST00000578240.1:n.703T>C
ENST00000578537.1:c.371T>C
NM_025099.5:c.2475T>C	NP_079375.3:p.Ala825=
NR_046431.1:n.2429T>C
XM_006721577.2:c.2346T>C	XP_006721640.1:p.Ala782=
XM_006721578.2:c.2475T>C	XP_006721641.1:p.Ala825=
XM_006721579.2:c.2475T>C	XP_006721642.1:p.Ala825=
XM_011524010.1:c.2370T>C	XP_011522312.1:p.Ala790=
XM_011524011.1:c.1578T>C	XP_011522313.1:p.Ala526=
XR_429823.2:n.2518T>C
XR_429824.2:n.2518T>C
XR_429825.1:n.2518T>C
NM_025099.6:c.2475T>C MANE Select	NP_079375.3:p.Ala825=
XM_006721577.3:c.2346T>C	XP_006721640.1:p.Ala782=
XM_006721578.3:c.2475T>C	XP_006721641.1:p.Ala825=
XM_011524010.2:c.2370T>C	XP_011522312.1:p.Ala790=
XM_011524011.2:c.1578T>C	XP_011522313.1:p.Ala526=
XR_001752639.1:n.2389T>C
XR_001752640.1:n.2518T>C
XR_001752641.1:n.2518T>C
XR_001752642.1:n.2518T>C
XR_001752643.1:n.2948T>C
XR_002958073.1:n.2518T>C
XR_429823.3:n.2518T>C
XR_429824.3:n.2518T>C
NR_046431.2:n.2390T>C