Canonical Allele Identifier: CA397978441

Gene: CTC1

Linked Data

• gnomAD v4: 17-8232099-C-A
• MyVariant Identifiers: chr17:g.8135417C>A (hg19) ; chr17:g.8232099C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232099C>A , CM000679.2:g.8232099C>A	GRCh38
NC_000017.10:g.8135417C>A , CM000679.1:g.8135417C>A	GRCh37
NC_000017.9:g.8076142C>A	NCBI36
NG_032148.1:g.20997G>T
NG_032148.2:g.20997G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2189G>T	ENSP00000462607.2:p.Ser730Ile
ENST00000581729.2:c.2189G>T	ENSP00000462720.2:p.Ser730Ile
ENST00000581967.2:n.2641G>T
ENST00000583254.2:n.2895G>T
ENST00000699849.1:c.1292G>T	ENSP00000514647.1:p.Ser431Ile
ENST00000699850.1:n.1452G>T
ENST00000699851.1:n.2211G>T
ENST00000699852.1:c.*865G>T	ENSP00000514648.1:n.*865G>T
ENST00000699853.1:c.2189G>T	ENSP00000514649.1:p.Ser730Ile
ENST00000699854.1:n.1982G>T
ENST00000699855.1:n.2641G>T
ENST00000699856.1:c.2189G>T	ENSP00000514650.1:p.Ser730Ile
ENST00000699857.1:n.2197G>T
ENST00000699858.1:c.*802G>T	ENSP00000514651.1:n.*802G>T
ENST00000699859.1:c.2060G>T	ENSP00000514652.1:p.Ser687Ile
ENST00000699860.1:n.295G>T
ENST00000699861.1:n.2211G>T
ENST00000699862.1:n.3149G>T
ENST00000449476.7:c.2084G>T	ENSP00000396018.2:p.Ser695Ile
ENST00000581671.2:n.2178G>T
ENST00000643543.1:c.*896G>T	ENSP00000494323.1:n.*896G>T
ENST00000651323.1:c.2189G>T MANE Select	ENSP00000498499.1:p.Ser730Ile
ENST00000315684.12:c.2189G>T	ENSP00000313759.8:p.Ser730Ile
ENST00000449476.6:c.2084G>T	ENSP00000396018.2:p.Ser695Ile
ENST00000578240.1:n.417G>T
ENST00000578537.1:c.85G>T
NM_025099.5:c.2189G>T	NP_079375.3:p.Ser730Ile
NR_046431.1:n.2143G>T
XM_006721577.2:c.2060G>T	XP_006721640.1:p.Ser687Ile
XM_006721578.2:c.2189G>T	XP_006721641.1:p.Ser730Ile
XM_006721579.2:c.2189G>T	XP_006721642.1:p.Ser730Ile
XM_011524010.1:c.2084G>T	XP_011522312.1:p.Ser695Ile
XM_011524011.1:c.1292G>T	XP_011522313.1:p.Ser431Ile
XR_429823.2:n.2232G>T
XR_429824.2:n.2232G>T
XR_429825.1:n.2232G>T
NM_025099.6:c.2189G>T MANE Select	NP_079375.3:p.Ser730Ile
XM_006721577.3:c.2060G>T	XP_006721640.1:p.Ser687Ile
XM_006721578.3:c.2189G>T	XP_006721641.1:p.Ser730Ile
XM_011524010.2:c.2084G>T	XP_011522312.1:p.Ser695Ile
XM_011524011.2:c.1292G>T	XP_011522313.1:p.Ser431Ile
XR_001752639.1:n.2103G>T
XR_001752640.1:n.2232G>T
XR_001752641.1:n.2232G>T
XR_001752642.1:n.2232G>T
XR_001752643.1:n.2662G>T
XR_002958073.1:n.2232G>T
XR_429823.3:n.2232G>T
XR_429824.3:n.2232G>T
NR_046431.2:n.2104G>T