Canonical Allele Identifier: CA8372151

Gene: CTC1

Linked Data

• dbSNP Id: rs762006782
• ExAC: 17:8135447 G / A
• gnomAD v2: 17-8135447-G-A
• gnomAD v4: 17-8232129-G-A
• MyVariant Identifiers: chr17:g.8135447G>A (hg19) ; chr17:g.8232129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8232129G>A , CM000679.2:g.8232129G>A	GRCh38
NC_000017.10:g.8135447G>A , CM000679.1:g.8135447G>A	GRCh37
NC_000017.9:g.8076172G>A	NCBI36
NG_032148.1:g.20967C>T
NG_032148.2:g.20967C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.2159C>T	ENSP00000462607.2:p.Thr720Ile
ENST00000581729.2:c.2159C>T	ENSP00000462720.2:p.Thr720Ile
ENST00000581967.2:n.2611C>T
ENST00000583254.2:n.2865C>T
ENST00000699849.1:c.1262C>T	ENSP00000514647.1:p.Thr421Ile
ENST00000699850.1:n.1422C>T
ENST00000699851.1:n.2181C>T
ENST00000699852.1:c.*835C>T	ENSP00000514648.1:n.*835C>T
ENST00000699853.1:c.2159C>T	ENSP00000514649.1:p.Thr720Ile
ENST00000699854.1:n.1952C>T
ENST00000699855.1:n.2611C>T
ENST00000699856.1:c.2159C>T	ENSP00000514650.1:p.Thr720Ile
ENST00000699857.1:n.2167C>T
ENST00000699858.1:c.*772C>T	ENSP00000514651.1:n.*772C>T
ENST00000699859.1:c.2030C>T	ENSP00000514652.1:p.Thr677Ile
ENST00000699860.1:n.265C>T
ENST00000699861.1:n.2181C>T
ENST00000699862.1:n.3119C>T
ENST00000449476.7:c.2054C>T	ENSP00000396018.2:p.Thr685Ile
ENST00000581671.2:n.2148C>T
ENST00000643543.1:c.*866C>T	ENSP00000494323.1:n.*866C>T
ENST00000651323.1:c.2159C>T MANE Select	ENSP00000498499.1:p.Thr720Ile
ENST00000315684.12:c.2159C>T	ENSP00000313759.8:p.Thr720Ile
ENST00000449476.6:c.2054C>T	ENSP00000396018.2:p.Thr685Ile
ENST00000578240.1:n.387C>T
ENST00000578537.1:c.55C>T
NM_025099.5:c.2159C>T	NP_079375.3:p.Thr720Ile
NR_046431.1:n.2113C>T
XM_006721577.2:c.2030C>T	XP_006721640.1:p.Thr677Ile
XM_006721578.2:c.2159C>T	XP_006721641.1:p.Thr720Ile
XM_006721579.2:c.2159C>T	XP_006721642.1:p.Thr720Ile
XM_011524010.1:c.2054C>T	XP_011522312.1:p.Thr685Ile
XM_011524011.1:c.1262C>T	XP_011522313.1:p.Thr421Ile
XR_429823.2:n.2202C>T
XR_429824.2:n.2202C>T
XR_429825.1:n.2202C>T
NM_025099.6:c.2159C>T MANE Select	NP_079375.3:p.Thr720Ile
XM_006721577.3:c.2030C>T	XP_006721640.1:p.Thr677Ile
XM_006721578.3:c.2159C>T	XP_006721641.1:p.Thr720Ile
XM_011524010.2:c.2054C>T	XP_011522312.1:p.Thr685Ile
XM_011524011.2:c.1262C>T	XP_011522313.1:p.Thr421Ile
XR_001752639.1:n.2073C>T
XR_001752640.1:n.2202C>T
XR_001752641.1:n.2202C>T
XR_001752642.1:n.2202C>T
XR_001752643.1:n.2632C>T
XR_002958073.1:n.2202C>T
XR_429823.3:n.2202C>T
XR_429824.3:n.2202C>T
NR_046431.2:n.2074C>T