Canonical Allele Identifier: CA397976628

Gene: CTC1

Linked Data

• dbSNP Id: rs1448845148
• gnomAD v2: 17-8135072-A-G
• gnomAD v4: 17-8231754-A-G
• MyVariant Identifiers: chr17:g.8135072A>G (hg19) ; chr17:g.8231754A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231754A>G , CM000679.2:g.8231754A>G	GRCh38
NC_000017.10:g.8135072A>G , CM000679.1:g.8135072A>G	GRCh37
NC_000017.9:g.8075797A>G	NCBI36
NG_032148.1:g.21342T>C
NG_032148.2:g.21342T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2447T>C	ENSP00000462607.2:p.Val816Ala
ENST00000581729.2:c.2447T>C	ENSP00000462720.2:p.Val816Ala
ENST00000581967.2:n.2899T>C
ENST00000583254.2:n.3240T>C
ENST00000699849.1:c.1550T>C	ENSP00000514647.1:p.Val517Ala
ENST00000699850.1:n.1710T>C
ENST00000699851.1:n.2469T>C
ENST00000699852.1:c.*1123T>C	ENSP00000514648.1:n.*1123T>C
ENST00000699853.1:c.2447T>C	ENSP00000514649.1:p.Val816Ala
ENST00000699854.1:n.2240T>C
ENST00000699855.1:n.2899T>C
ENST00000699856.1:c.2447T>C	ENSP00000514650.1:p.Val816Ala
ENST00000699857.1:n.2455T>C
ENST00000699858.1:c.*1060T>C	ENSP00000514651.1:n.*1060T>C
ENST00000699859.1:c.2318T>C	ENSP00000514652.1:p.Val773Ala
ENST00000699860.1:n.553T>C
ENST00000699861.1:n.2469T>C
ENST00000699862.1:n.3407T>C
ENST00000449476.7:c.2342T>C	ENSP00000396018.2:p.Val781Ala
ENST00000581671.2:n.2436T>C
ENST00000643543.1:c.*1154T>C	ENSP00000494323.1:n.*1154T>C
ENST00000651323.1:c.2447T>C MANE Select	ENSP00000498499.1:p.Val816Ala
ENST00000315684.12:c.2447T>C	ENSP00000313759.8:p.Val816Ala
ENST00000449476.6:c.2342T>C	ENSP00000396018.2:p.Val781Ala
ENST00000578240.1:n.675T>C
ENST00000578537.1:c.343T>C
NM_025099.5:c.2447T>C	NP_079375.3:p.Val816Ala
NR_046431.1:n.2401T>C
XM_006721577.2:c.2318T>C	XP_006721640.1:p.Val773Ala
XM_006721578.2:c.2447T>C	XP_006721641.1:p.Val816Ala
XM_006721579.2:c.2447T>C	XP_006721642.1:p.Val816Ala
XM_011524010.1:c.2342T>C	XP_011522312.1:p.Val781Ala
XM_011524011.1:c.1550T>C	XP_011522313.1:p.Val517Ala
XR_429823.2:n.2490T>C
XR_429824.2:n.2490T>C
XR_429825.1:n.2490T>C
NM_025099.6:c.2447T>C MANE Select	NP_079375.3:p.Val816Ala
XM_006721577.3:c.2318T>C	XP_006721640.1:p.Val773Ala
XM_006721578.3:c.2447T>C	XP_006721641.1:p.Val816Ala
XM_011524010.2:c.2342T>C	XP_011522312.1:p.Val781Ala
XM_011524011.2:c.1550T>C	XP_011522313.1:p.Val517Ala
XR_001752639.1:n.2361T>C
XR_001752640.1:n.2490T>C
XR_001752641.1:n.2490T>C
XR_001752642.1:n.2490T>C
XR_001752643.1:n.2920T>C
XR_002958073.1:n.2490T>C
XR_429823.3:n.2490T>C
XR_429824.3:n.2490T>C
NR_046431.2:n.2362T>C