Canonical Allele Identifier: CA397976685

Gene: CTC1

Linked Data

• MyVariant Identifiers: chr17:g.8135081G>T (hg19) ; chr17:g.8231763G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8231763G>T , CM000679.2:g.8231763G>T	GRCh38
NC_000017.10:g.8135081G>T , CM000679.1:g.8135081G>T	GRCh37
NC_000017.9:g.8075806G>T	NCBI36
NG_032148.1:g.21333C>A
NG_032148.2:g.21333C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2438C>A	ENSP00000462607.2:p.Pro813Gln
ENST00000581729.2:c.2438C>A	ENSP00000462720.2:p.Pro813Gln
ENST00000581967.2:n.2890C>A
ENST00000583254.2:n.3231C>A
ENST00000699849.1:c.1541C>A	ENSP00000514647.1:p.Pro514Gln
ENST00000699850.1:n.1701C>A
ENST00000699851.1:n.2460C>A
ENST00000699852.1:c.*1114C>A	ENSP00000514648.1:n.*1114C>A
ENST00000699853.1:c.2438C>A	ENSP00000514649.1:p.Pro813Gln
ENST00000699854.1:n.2231C>A
ENST00000699855.1:n.2890C>A
ENST00000699856.1:c.2438C>A	ENSP00000514650.1:p.Pro813Gln
ENST00000699857.1:n.2446C>A
ENST00000699858.1:c.*1051C>A	ENSP00000514651.1:n.*1051C>A
ENST00000699859.1:c.2309C>A	ENSP00000514652.1:p.Pro770Gln
ENST00000699860.1:n.544C>A
ENST00000699861.1:n.2460C>A
ENST00000699862.1:n.3398C>A
ENST00000449476.7:c.2333C>A	ENSP00000396018.2:p.Pro778Gln
ENST00000581671.2:n.2427C>A
ENST00000643543.1:c.*1145C>A	ENSP00000494323.1:n.*1145C>A
ENST00000651323.1:c.2438C>A MANE Select	ENSP00000498499.1:p.Pro813Gln
ENST00000315684.12:c.2438C>A	ENSP00000313759.8:p.Pro813Gln
ENST00000449476.6:c.2333C>A	ENSP00000396018.2:p.Pro778Gln
ENST00000578240.1:n.666C>A
ENST00000578537.1:c.334C>A
NM_025099.5:c.2438C>A	NP_079375.3:p.Pro813Gln
NR_046431.1:n.2392C>A
XM_006721577.2:c.2309C>A	XP_006721640.1:p.Pro770Gln
XM_006721578.2:c.2438C>A	XP_006721641.1:p.Pro813Gln
XM_006721579.2:c.2438C>A	XP_006721642.1:p.Pro813Gln
XM_011524010.1:c.2333C>A	XP_011522312.1:p.Pro778Gln
XM_011524011.1:c.1541C>A	XP_011522313.1:p.Pro514Gln
XR_429823.2:n.2481C>A
XR_429824.2:n.2481C>A
XR_429825.1:n.2481C>A
NM_025099.6:c.2438C>A MANE Select	NP_079375.3:p.Pro813Gln
XM_006721577.3:c.2309C>A	XP_006721640.1:p.Pro770Gln
XM_006721578.3:c.2438C>A	XP_006721641.1:p.Pro813Gln
XM_011524010.2:c.2333C>A	XP_011522312.1:p.Pro778Gln
XM_011524011.2:c.1541C>A	XP_011522313.1:p.Pro514Gln
XR_001752639.1:n.2352C>A
XR_001752640.1:n.2481C>A
XR_001752641.1:n.2481C>A
XR_001752642.1:n.2481C>A
XR_001752643.1:n.2911C>A
XR_002958073.1:n.2481C>A
XR_429823.3:n.2481C>A
XR_429824.3:n.2481C>A
NR_046431.2:n.2353C>A