Canonical Allele Identifier: CA129608

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8229943G>A , CM000679.2:g.8229943G>A	GRCh38
NC_000017.10:g.8133261G>A , CM000679.1:g.8133261G>A	GRCh37
NC_000017.9:g.8073986G>A	NCBI36
NG_032148.1:g.23153C>T
NG_032148.2:g.23153C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_025099.6:c.2959C>T MANE Select	NP_079375.3:p.Arg987Trp
ENST00000651323.1:c.2959C>T MANE Select	ENSP00000498499.1:p.Arg987Trp
NM_025099.5:c.2959C>T	NP_079375.3:p.Arg987Trp
NR_046431.1:n.2913C>T
NR_046431.2:n.2874C>T
ENST00000315684.12:c.2959C>T	ENSP00000313759.8:p.Arg987Trp
ENST00000449476.6:c.2854C>T	ENSP00000396018.2:p.Arg952Trp
ENST00000449476.7:c.2854C>T	ENSP00000396018.2:p.Arg952Trp
ENST00000578240.1:n.1512C>T
ENST00000578441.5:n.337-21C>T
ENST00000578537.1:c.636-21C>T
ENST00000580299.1:c.130C>T	ENSP00000462607.1:p.Arg44Trp
ENST00000580299.2:c.2959C>T	ENSP00000462607.2:p.Arg987Trp
ENST00000581671.2:n.2948C>T
ENST00000581729.2:c.2959C>T	ENSP00000462720.2:p.Arg987Trp
ENST00000581967.2:n.3411C>T
ENST00000583254.2:n.4957C>T
ENST00000643543.1:c.*1666C>T	ENSP00000494323.1:n.*1666C>T
ENST00000699849.1:c.2062C>T	ENSP00000514647.1:p.Arg688Trp
ENST00000699850.1:n.2547C>T
ENST00000699851.1:n.3306C>T
ENST00000699852.1:c.*1537C>T	ENSP00000514648.1:n.*1537C>T
ENST00000699853.1:c.2959C>T	ENSP00000514649.1:p.Arg987Trp
ENST00000699854.1:n.3077C>T
ENST00000699855.1:n.3736C>T
ENST00000699856.1:c.2934-21C>T	ENSP00000514650.1:n.2934-21C>T
ENST00000699857.1:n.3194C>T
ENST00000699858.1:c.*1897C>T	ENSP00000514651.1:n.*1897C>T
ENST00000699859.1:c.2830C>T	ENSP00000514652.1:p.Arg944Trp
ENST00000699860.1:n.1196C>T
ENST00000699861.1:n.2981C>T
ENST00000699862.1:n.4244C>T
XM_006721577.2:c.2830C>T	XP_006721640.1:p.Arg944Trp
XM_006721577.3:c.2830C>T	XP_006721640.1:p.Arg944Trp
XM_006721578.2:c.2959C>T	XP_006721641.1:p.Arg987Trp
XM_006721578.3:c.2959C>T	XP_006721641.1:p.Arg987Trp
XM_006721579.2:c.2934-21C>T	XP_006721642.1:n.2934-21C>T
XM_011524010.1:c.2854C>T	XP_011522312.1:p.Arg952Trp
XM_011524010.2:c.2854C>T	XP_011522312.1:p.Arg952Trp
XM_011524011.1:c.2062C>T	XP_011522313.1:p.Arg688Trp
XM_011524011.2:c.2062C>T	XP_011522313.1:p.Arg688Trp
XR_001752639.1:n.2873C>T
XR_001752640.1:n.2977-21C>T
XR_001752641.1:n.2977-21C>T
XR_001752642.1:n.2808C>T
XR_001752643.1:n.3432C>T
XR_002958073.1:n.2808C>T
XR_429823.2:n.3002C>T
XR_429823.3:n.3002C>T
XR_429824.2:n.3002C>T
XR_429824.3:n.3002C>T
XR_429825.1:n.2808C>T