Canonical Allele Identifier: CA10651355

Gene: CTC1

Linked Data

• ClinVar Variation Id: 326040
• ClinVar RCV Id: RCV000346216
• dbSNP Id: rs886053605
• MyVariant Identifiers: chr17:g.8130343G>A (hg19) ; chr17:g.8227025G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8227025G>A , CM000679.2:g.8227025G>A	GRCh38
NC_000017.10:g.8130343G>A , CM000679.1:g.8130343G>A	GRCh37
NC_000017.9:g.8071068G>A	NCBI36
NG_032148.1:g.26071C>T
NG_032148.2:g.26071C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699849.1:c.*1155C>T	ENSP00000514647.1:n.*1155C>T
ENST00000699850.1:n.4741C>T
ENST00000699851.1:n.5695C>T
ENST00000699852.1:c.*3322C>T	ENSP00000514648.1:n.*3322C>T
ENST00000699853.1:c.*1394C>T	ENSP00000514649.1:n.*1394C>T
ENST00000449476.7:c.*1543C>T	ENSP00000396018.2:n.*1543C>T
ENST00000643543.1:c.*3516C>T	ENSP00000494323.1:n.*3516C>T
ENST00000651323.1:c.*1155C>T MANE Select	ENSP00000498499.1:n.*1155C>T
ENST00000315684.12:c.*1155C>T	ENSP00000313759.8:n.*1155C>T
ENST00000449476.6:c.*1543C>T	ENSP00000396018.2:n.*1543C>T
NM_025099.5:c.*1155C>T	NP_079375.3:n.*1155C>T
NR_046431.1:n.4698C>T
XM_006721577.2:c.*1155C>T	XP_006721640.1:n.*1155C>T
XM_006721578.2:c.*1155C>T	XP_006721641.1:n.*1155C>T
XM_011524010.1:c.*1155C>T	XP_011522312.1:n.*1155C>T
XM_011524011.1:c.*1155C>T	XP_011522313.1:n.*1155C>T
XR_429823.2:n.4686C>T
XR_429824.2:n.4787C>T
NM_025099.6:c.*1155C>T MANE Select	NP_079375.3:n.*1155C>T
XM_006721577.3:c.*1155C>T	XP_006721640.1:n.*1155C>T
XM_006721578.3:c.*1155C>T	XP_006721641.1:n.*1155C>T
XM_011524010.2:c.*1155C>T	XP_011522312.1:n.*1155C>T
XM_011524011.2:c.*1155C>T	XP_011522313.1:n.*1155C>T
XR_001752639.1:n.4660C>T
XR_001752640.1:n.4808C>T
XR_001752641.1:n.4743C>T
XR_001752642.1:n.4593C>T
XR_002958073.1:n.5099C>T
XR_429823.3:n.4686C>T
XR_429824.3:n.4787C>T
NR_046431.2:n.4659C>T