Canonical Allele Identifier: CA397976570

Gene: CTC1

Linked Data

• gnomAD v3: 17-8231743-T-A
• gnomAD v4: 17-8231743-T-A
• MyVariant Identifiers: chr17:g.8135061T>A (hg19) ; chr17:g.8231743T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231743T>A , CM000679.2:g.8231743T>A	GRCh38
NC_000017.10:g.8135061T>A , CM000679.1:g.8135061T>A	GRCh37
NC_000017.9:g.8075786T>A	NCBI36
NG_032148.1:g.21353A>T
NG_032148.2:g.21353A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2458A>T	ENSP00000462607.2:p.Ile820Leu
ENST00000581729.2:c.2458A>T	ENSP00000462720.2:p.Ile820Leu
ENST00000581967.2:n.2910A>T
ENST00000583254.2:n.3251A>T
ENST00000699849.1:c.1561A>T	ENSP00000514647.1:p.Ile521Leu
ENST00000699850.1:n.1721A>T
ENST00000699851.1:n.2480A>T
ENST00000699852.1:c.*1134A>T	ENSP00000514648.1:n.*1134A>T
ENST00000699853.1:c.2458A>T	ENSP00000514649.1:p.Ile820Leu
ENST00000699854.1:n.2251A>T
ENST00000699855.1:n.2910A>T
ENST00000699856.1:c.2458A>T	ENSP00000514650.1:p.Ile820Leu
ENST00000699857.1:n.2466A>T
ENST00000699858.1:c.*1071A>T	ENSP00000514651.1:n.*1071A>T
ENST00000699859.1:c.2329A>T	ENSP00000514652.1:p.Ile777Leu
ENST00000699860.1:n.564A>T
ENST00000699861.1:n.2480A>T
ENST00000699862.1:n.3418A>T
ENST00000449476.7:c.2353A>T	ENSP00000396018.2:p.Ile785Leu
ENST00000581671.2:n.2447A>T
ENST00000643543.1:c.*1165A>T	ENSP00000494323.1:n.*1165A>T
ENST00000651323.1:c.2458A>T MANE Select	ENSP00000498499.1:p.Ile820Leu
ENST00000315684.12:c.2458A>T	ENSP00000313759.8:p.Ile820Leu
ENST00000449476.6:c.2353A>T	ENSP00000396018.2:p.Ile785Leu
ENST00000578240.1:n.686A>T
ENST00000578537.1:c.354A>T
NM_025099.5:c.2458A>T	NP_079375.3:p.Ile820Leu
NR_046431.1:n.2412A>T
XM_006721577.2:c.2329A>T	XP_006721640.1:p.Ile777Leu
XM_006721578.2:c.2458A>T	XP_006721641.1:p.Ile820Leu
XM_006721579.2:c.2458A>T	XP_006721642.1:p.Ile820Leu
XM_011524010.1:c.2353A>T	XP_011522312.1:p.Ile785Leu
XM_011524011.1:c.1561A>T	XP_011522313.1:p.Ile521Leu
XR_429823.2:n.2501A>T
XR_429824.2:n.2501A>T
XR_429825.1:n.2501A>T
NM_025099.6:c.2458A>T MANE Select	NP_079375.3:p.Ile820Leu
XM_006721577.3:c.2329A>T	XP_006721640.1:p.Ile777Leu
XM_006721578.3:c.2458A>T	XP_006721641.1:p.Ile820Leu
XM_011524010.2:c.2353A>T	XP_011522312.1:p.Ile785Leu
XM_011524011.2:c.1561A>T	XP_011522313.1:p.Ile521Leu
XR_001752639.1:n.2372A>T
XR_001752640.1:n.2501A>T
XR_001752641.1:n.2501A>T
XR_001752642.1:n.2501A>T
XR_001752643.1:n.2931A>T
XR_002958073.1:n.2501A>T
XR_429823.3:n.2501A>T
XR_429824.3:n.2501A>T
NR_046431.2:n.2373A>T