Canonical Allele Identifier: CA10647155

Gene: CTC1

Linked Data

• ClinVar Variation Id: 326001
• ClinVar RCV Id: RCV000397579
• dbSNP Id: rs886053593
• gnomAD v3: 17-8226241-C-T
• gnomAD v4: 17-8226241-C-T
• MyVariant Identifiers: chr17:g.8129559C>T (hg19) ; chr17:g.8226241C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8226241C>T , CM000679.2:g.8226241C>T	GRCh38
NC_000017.10:g.8129559C>T , CM000679.1:g.8129559C>T	GRCh37
NC_000017.9:g.8070284C>T	NCBI36
NG_032148.1:g.26855G>A
NG_032148.2:g.26855G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651323.1:c.*1939G>A MANE Select	ENSP00000498499.1:n.*1939G>A
ENST00000315684.12:c.*1939G>A	ENSP00000313759.8:n.*1939G>A
NM_025099.5:c.*1939G>A	NP_079375.3:n.*1939G>A
NR_046431.1:n.5482G>A
XM_006721577.2:c.*1939G>A	XP_006721640.1:n.*1939G>A
XM_006721578.2:c.*1939G>A	XP_006721641.1:n.*1939G>A
XM_011524010.1:c.*1939G>A	XP_011522312.1:n.*1939G>A
XM_011524011.1:c.*1939G>A	XP_011522313.1:n.*1939G>A
XR_429823.2:n.5470G>A
XR_429824.2:n.5571G>A
NM_025099.6:c.*1939G>A MANE Select	NP_079375.3:n.*1939G>A
XM_006721577.3:c.*1939G>A	XP_006721640.1:n.*1939G>A
XM_006721578.3:c.*1939G>A	XP_006721641.1:n.*1939G>A
XM_011524010.2:c.*1939G>A	XP_011522312.1:n.*1939G>A
XM_011524011.2:c.*1939G>A	XP_011522313.1:n.*1939G>A
XR_001752639.1:n.5444G>A
XR_001752640.1:n.5592G>A
XR_001752641.1:n.5527G>A
XR_001752642.1:n.5377G>A
XR_002958073.1:n.5883G>A
XR_429823.3:n.5470G>A
XR_429824.3:n.5571G>A
NR_046431.2:n.5443G>A