Canonical Allele Identifier: CA397979060

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232193-T-C
• MyVariant Identifiers: chr17:g.8135511T>C (hg19) ; chr17:g.8232193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232193T>C , CM000679.2:g.8232193T>C	GRCh38
NC_000017.10:g.8135511T>C , CM000679.1:g.8135511T>C	GRCh37
NC_000017.9:g.8076236T>C	NCBI36
NG_032148.1:g.20903A>G
NG_032148.2:g.20903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2095A>G	ENSP00000462607.2:p.Ile699Val
ENST00000581729.2:c.2095A>G	ENSP00000462720.2:p.Ile699Val
ENST00000581967.2:n.2547A>G
ENST00000583254.2:n.2801A>G
ENST00000699849.1:c.1198A>G	ENSP00000514647.1:p.Ile400Val
ENST00000699850.1:n.1358A>G
ENST00000699851.1:n.2117A>G
ENST00000699852.1:c.*771A>G	ENSP00000514648.1:n.*771A>G
ENST00000699853.1:c.2095A>G	ENSP00000514649.1:p.Ile699Val
ENST00000699854.1:n.1888A>G
ENST00000699855.1:n.2547A>G
ENST00000699856.1:c.2095A>G	ENSP00000514650.1:p.Ile699Val
ENST00000699857.1:n.2103A>G
ENST00000699858.1:c.*708A>G	ENSP00000514651.1:n.*708A>G
ENST00000699859.1:c.1966A>G	ENSP00000514652.1:p.Ile656Val
ENST00000699860.1:n.201A>G
ENST00000699861.1:n.2117A>G
ENST00000699862.1:n.3055A>G
ENST00000449476.7:c.1990A>G	ENSP00000396018.2:p.Ile664Val
ENST00000581671.2:n.2084A>G
ENST00000643543.1:c.*802A>G	ENSP00000494323.1:n.*802A>G
ENST00000651323.1:c.2095A>G MANE Select	ENSP00000498499.1:p.Ile699Val
ENST00000315684.12:c.2095A>G	ENSP00000313759.8:p.Ile699Val
ENST00000449476.6:c.1990A>G	ENSP00000396018.2:p.Ile664Val
ENST00000578240.1:n.323A>G
NM_025099.5:c.2095A>G	NP_079375.3:p.Ile699Val
NR_046431.1:n.2049A>G
XM_006721577.2:c.1966A>G	XP_006721640.1:p.Ile656Val
XM_006721578.2:c.2095A>G	XP_006721641.1:p.Ile699Val
XM_006721579.2:c.2095A>G	XP_006721642.1:p.Ile699Val
XM_011524010.1:c.1990A>G	XP_011522312.1:p.Ile664Val
XM_011524011.1:c.1198A>G	XP_011522313.1:p.Ile400Val
XR_429823.2:n.2138A>G
XR_429824.2:n.2138A>G
XR_429825.1:n.2138A>G
NM_025099.6:c.2095A>G MANE Select	NP_079375.3:p.Ile699Val
XM_006721577.3:c.1966A>G	XP_006721640.1:p.Ile656Val
XM_006721578.3:c.2095A>G	XP_006721641.1:p.Ile699Val
XM_011524010.2:c.1990A>G	XP_011522312.1:p.Ile664Val
XM_011524011.2:c.1198A>G	XP_011522313.1:p.Ile400Val
XR_001752639.1:n.2009A>G
XR_001752640.1:n.2138A>G
XR_001752641.1:n.2138A>G
XR_001752642.1:n.2138A>G
XR_001752643.1:n.2568A>G
XR_002958073.1:n.2138A>G
XR_429823.3:n.2138A>G
XR_429824.3:n.2138A>G
NR_046431.2:n.2010A>G