Canonical Allele Identifier: CA8371845
Community Standard Title: NM_025099.6(CTC1):c.3221+1G>A
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8229141C>T , CM000679.2:g.8229141C>T GRCh38
NC_000017.10:g.8132459C>T , CM000679.1:g.8132459C>T GRCh37
NC_000017.9:g.8073184C>T NCBI36
NG_032148.1:g.23955G>A
NG_032148.2:g.23955G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.3221+1G>A MANE Select NP_079375.3:n.3221+1G>A
ENST00000651323.1:c.3221+1G>A MANE Select ENSP00000498499.1:n.3221+1G>A
NM_025099.5:c.3221+1G>A NP_079375.3:n.3221+1G>A
NR_046431.1:n.3110+161G>A
NR_046431.2:n.3071+161G>A
ENST00000315684.12:c.3221+1G>A ENSP00000313759.8:n.3221+1G>A
ENST00000449476.6:c.3051+161G>A ENSP00000396018.2:n.3051+161G>A
ENST00000449476.7:c.3051+161G>A ENSP00000396018.2:n.3051+161G>A
ENST00000578441.5:n.673+1G>A
ENST00000578537.1:c.877+1G>A
ENST00000580299.1:c.294+194G>A ENSP00000462607.1:n.294+194G>A
ENST00000580299.2:c.3123+194G>A ENSP00000462607.2:n.3123+194G>A
ENST00000581671.2:n.3210+1G>A
ENST00000581729.1:c.104+161G>A
ENST00000581729.2:c.3156+161G>A ENSP00000462720.2:n.3156+161G>A
ENST00000581967.2:n.3608+161G>A
ENST00000643543.1:c.*1928+1G>A ENSP00000494323.1:n.*1928+1G>A
ENST00000699849.1:c.2259+161G>A ENSP00000514647.1:n.2259+161G>A
ENST00000699850.1:n.2905G>A
ENST00000699851.1:n.4107+1G>A
ENST00000699852.1:c.*1734+161G>A ENSP00000514648.1:n.*1734+161G>A
ENST00000699853.1:c.3221+1G>A ENSP00000514649.1:n.3221+1G>A
ENST00000699854.1:n.3435G>A
ENST00000699855.1:n.3999G>A
ENST00000699856.1:c.*170+161G>A ENSP00000514650.1:n.*170+161G>A
ENST00000699857.1:n.3552G>A
ENST00000699858.1:c.*2255G>A ENSP00000514651.1:n.*2255G>A
ENST00000699859.1:c.3027+161G>A ENSP00000514652.1:n.3027+161G>A
ENST00000699860.1:n.1554G>A
ENST00000699861.1:n.3339G>A
XM_006721577.2:c.3092+1G>A XP_006721640.1:n.3092+1G>A
XM_006721577.3:c.3092+1G>A XP_006721640.1:n.3092+1G>A
XM_006721578.2:c.3156+161G>A XP_006721641.1:n.3156+161G>A
XM_006721578.3:c.3156+161G>A XP_006721641.1:n.3156+161G>A
XM_011524010.1:c.3116+1G>A XP_011522312.1:n.3116+1G>A
XM_011524010.2:c.3116+1G>A XP_011522312.1:n.3116+1G>A
XM_011524011.1:c.2324+1G>A XP_011522313.1:n.2324+1G>A
XM_011524011.2:c.2324+1G>A XP_011522313.1:n.2324+1G>A
XR_001752639.1:n.3070+161G>A
XR_001752640.1:n.3218+1G>A
XR_001752641.1:n.3153+161G>A
XR_001752642.1:n.3005+161G>A
XR_001752643.1:n.3629+161G>A
XR_002958073.1:n.3166G>A
XR_429823.2:n.3264+1G>A
XR_429823.3:n.3264+1G>A
XR_429824.2:n.3199+161G>A
XR_429824.3:n.3199+161G>A
XR_429825.1:n.3070+1G>A