Canonical Allele Identifier: CA8371752
Community Standard Title: NM_025099.6(CTC1):c.3514+8T>G
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8228495A>C , CM000679.2:g.8228495A>C GRCh38
NC_000017.10:g.8131813A>C , CM000679.1:g.8131813A>C GRCh37
NC_000017.9:g.8072538A>C NCBI36
NG_032148.1:g.24601T>G
NG_032148.2:g.24601T>G

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3514+8T>G MANE Select NP_079375.3:n.3514+8T>G
ENST00000651323.1:c.3514+8T>G MANE Select ENSP00000498499.1:n.3514+8T>G
NM_025099.5:c.3514+8T>G NP_079375.3:n.3514+8T>G
NR_046431.1:n.3403+8T>G
NR_046431.2:n.3364+8T>G
ENST00000315684.12:c.3514+8T>G ENSP00000313759.8:n.3514+8T>G
ENST00000449476.6:c.*248+8T>G ENSP00000396018.2:n.*248+8T>G
ENST00000449476.7:c.*248+8T>G ENSP00000396018.2:n.*248+8T>G
ENST00000580299.2:c.3250+8T>G ENSP00000462607.2:n.3250+8T>G
ENST00000581671.2:n.3503+8T>G
ENST00000581729.1:c.231+8T>G
ENST00000581729.2:c.3283+8T>G ENSP00000462720.2:n.3283+8T>G
ENST00000643543.1:c.*2221+8T>G ENSP00000494323.1:n.*2221+8T>G
ENST00000699849.1:c.2386+8T>G ENSP00000514647.1:n.2386+8T>G
ENST00000699850.1:n.3446+8T>G
ENST00000699851.1:n.4400+8T>G
ENST00000699852.1:c.*2027+8T>G ENSP00000514648.1:n.*2027+8T>G
ENST00000699853.1:c.*99+8T>G ENSP00000514649.1:n.*99+8T>G
ENST00000699854.1:n.4073+8T>G
ENST00000699855.1:n.4637+8T>G
ENST00000699856.1:c.*465+8T>G ENSP00000514650.1:n.*465+8T>G
ENST00000699857.1:n.4093+8T>G
ENST00000699858.1:c.*2798+8T>G ENSP00000514651.1:n.*2798+8T>G
ENST00000699859.1:c.*250+8T>G ENSP00000514652.1:n.*250+8T>G
ENST00000699860.1:n.2192+8T>G
ENST00000699861.1:n.3977+8T>G
XM_006721577.2:c.3385+8T>G XP_006721640.1:n.3385+8T>G
XM_006721577.3:c.3385+8T>G XP_006721640.1:n.3385+8T>G
XM_006721578.2:c.3283+8T>G XP_006721641.1:n.3283+8T>G
XM_006721578.3:c.3283+8T>G XP_006721641.1:n.3283+8T>G
XM_011524010.1:c.3409+8T>G XP_011522312.1:n.3409+8T>G
XM_011524010.2:c.3409+8T>G XP_011522312.1:n.3409+8T>G
XM_011524011.1:c.2617+8T>G XP_011522313.1:n.2617+8T>G
XM_011524011.2:c.2617+8T>G XP_011522313.1:n.2617+8T>G
XR_001752639.1:n.3365+8T>G
XR_001752640.1:n.3513+8T>G
XR_001752641.1:n.3448+8T>G
XR_001752642.1:n.3298+8T>G
XR_002958073.1:n.3804+8T>G
XR_429823.2:n.3391+8T>G
XR_429823.3:n.3391+8T>G
XR_429824.2:n.3492+8T>G
XR_429824.3:n.3492+8T>G