Canonical Allele Identifier: CA8371714

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228279A>C , CM000679.2:g.8228279A>C	GRCh38
NC_000017.10:g.8131597A>C , CM000679.1:g.8131597A>C	GRCh37
NC_000017.9:g.8072322A>C	NCBI36
NG_032148.1:g.24817T>G
NG_032148.2:g.24817T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3291T>G	ENSP00000462607.2:p.Pro1097=
ENST00000581729.2:c.3324T>G	ENSP00000462720.2:p.Pro1108=
ENST00000699849.1:c.2427T>G	ENSP00000514647.1:p.Pro809=
ENST00000699850.1:n.3487T>G
ENST00000699851.1:n.4441T>G
ENST00000699852.1:c.*2068T>G	ENSP00000514648.1:n.*2068T>G
ENST00000699853.1:c.*140T>G	ENSP00000514649.1:n.*140T>G
ENST00000699854.1:n.4114T>G
ENST00000699855.1:n.4678T>G
ENST00000699856.1:c.*506T>G	ENSP00000514650.1:n.*506T>G
ENST00000699857.1:n.4134T>G
ENST00000699858.1:c.*2839T>G	ENSP00000514651.1:n.*2839T>G
ENST00000699859.1:c.*291T>G	ENSP00000514652.1:n.*291T>G
ENST00000699860.1:n.2233T>G
ENST00000699861.1:n.4018T>G
ENST00000449476.7:c.*289T>G	ENSP00000396018.2:n.*289T>G
ENST00000581671.2:n.3544T>G
ENST00000643543.1:c.*2262T>G	ENSP00000494323.1:n.*2262T>G
ENST00000651323.1:c.3555T>G MANE Select	ENSP00000498499.1:p.Pro1185=
ENST00000315684.12:c.3555T>G	ENSP00000313759.8:p.Pro1185=
ENST00000449476.6:c.*289T>G	ENSP00000396018.2:n.*289T>G
ENST00000581729.1:c.272T>G
NM_025099.5:c.3555T>G	NP_079375.3:p.Pro1185=
NR_046431.1:n.3444T>G
XM_006721577.2:c.3426T>G	XP_006721640.1:p.Pro1142=
XM_006721578.2:c.3324T>G	XP_006721641.1:p.Pro1108=
XM_011524010.1:c.3450T>G	XP_011522312.1:p.Pro1150=
XM_011524011.1:c.2658T>G	XP_011522313.1:p.Pro886=
XR_429823.2:n.3432T>G
XR_429824.2:n.3533T>G
NM_025099.6:c.3555T>G MANE Select	NP_079375.3:p.Pro1185=
XM_006721577.3:c.3426T>G	XP_006721640.1:p.Pro1142=
XM_006721578.3:c.3324T>G	XP_006721641.1:p.Pro1108=
XM_011524010.2:c.3450T>G	XP_011522312.1:p.Pro1150=
XM_011524011.2:c.2658T>G	XP_011522313.1:p.Pro886=
XR_001752639.1:n.3406T>G
XR_001752640.1:n.3554T>G
XR_001752641.1:n.3489T>G
XR_001752642.1:n.3339T>G
XR_002958073.1:n.3845T>G
XR_429823.3:n.3432T>G
XR_429824.3:n.3533T>G
NR_046431.2:n.3405T>G