Canonical Allele Identifier: CA397969068

Gene: CTC1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8228743G>A , CM000679.2:g.8228743G>A	GRCh38
NC_000017.10:g.8132061G>A , CM000679.1:g.8132061G>A	GRCh37
NC_000017.9:g.8072786G>A	NCBI36
NG_032148.1:g.24353C>T
NG_032148.2:g.24353C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580299.2:c.3124-114C>T	ENSP00000462607.2:n.3124-114C>T
ENST00000581729.2:c.3157-114C>T	ENSP00000462720.2:n.3157-114C>T
ENST00000581967.2:n.3758C>T
ENST00000699849.1:c.2260-114C>T	ENSP00000514647.1:n.2260-114C>T
ENST00000699850.1:n.3303C>T
ENST00000699851.1:n.4257C>T
ENST00000699852.1:c.*1884C>T	ENSP00000514648.1:n.*1884C>T
ENST00000699853.1:c.3222-114C>T	ENSP00000514649.1:n.3222-114C>T
ENST00000699854.1:n.3833C>T
ENST00000699855.1:n.4397C>T
ENST00000699856.1:c.*320C>T	ENSP00000514650.1:n.*320C>T
ENST00000699857.1:n.3950C>T
ENST00000699858.1:c.*2653C>T	ENSP00000514651.1:n.*2653C>T
ENST00000699859.1:c.*105C>T	ENSP00000514652.1:n.*105C>T
ENST00000699860.1:n.1952C>T
ENST00000699861.1:n.3737C>T
ENST00000449476.7:c.*105C>T	ENSP00000396018.2:n.*105C>T
ENST00000581671.2:n.3360C>T
ENST00000643543.1:c.*2078C>T	ENSP00000494323.1:n.*2078C>T
ENST00000651323.1:c.3371C>T MANE Select	ENSP00000498499.1:p.Pro1124Leu
ENST00000315684.12:c.3371C>T	ENSP00000313759.8:p.Pro1124Leu
ENST00000449476.6:c.*105C>T	ENSP00000396018.2:n.*105C>T
ENST00000580299.1:c.295-114C>T	ENSP00000462607.1:n.295-114C>T
ENST00000581729.1:c.105-114C>T
NM_025099.5:c.3371C>T	NP_079375.3:p.Pro1124Leu
NR_046431.1:n.3260C>T
XM_006721577.2:c.3242C>T	XP_006721640.1:p.Pro1081Leu
XM_006721578.2:c.3157-114C>T	XP_006721641.1:n.3157-114C>T
XM_011524010.1:c.3266C>T	XP_011522312.1:p.Pro1089Leu
XM_011524011.1:c.2474C>T	XP_011522313.1:p.Pro825Leu
XR_429823.2:n.3265-114C>T
XR_429824.2:n.3349C>T
NM_025099.6:c.3371C>T MANE Select	NP_079375.3:p.Pro1124Leu
XM_006721577.3:c.3242C>T	XP_006721640.1:p.Pro1081Leu
XM_006721578.3:c.3157-114C>T	XP_006721641.1:n.3157-114C>T
XM_011524010.2:c.3266C>T	XP_011522312.1:p.Pro1089Leu
XM_011524011.2:c.2474C>T	XP_011522313.1:p.Pro825Leu
XR_001752639.1:n.3220C>T
XR_001752640.1:n.3368C>T
XR_001752641.1:n.3303C>T
XR_001752642.1:n.3155C>T
XR_001752643.1:n.3779C>T
XR_002958073.1:n.3564C>T
XR_429823.3:n.3265-114C>T
XR_429824.3:n.3349C>T
NR_046431.2:n.3221C>T