Canonical Allele Identifier: CA8372113
Community Standard Title: NM_025099.6(CTC1):c.2371G>A (p.Asp791Asn)
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8231917C>T , CM000679.2:g.8231917C>T GRCh38
NC_000017.10:g.8135235C>T , CM000679.1:g.8135235C>T GRCh37
NC_000017.9:g.8075960C>T NCBI36
NG_032148.1:g.21179G>A
NG_032148.2:g.21179G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.2371G>A MANE Select NP_079375.3:p.Asp791Asn
ENST00000651323.1:c.2371G>A MANE Select ENSP00000498499.1:p.Asp791Asn
NM_025099.5:c.2371G>A NP_079375.3:p.Asp791Asn
NR_046431.1:n.2325G>A
NR_046431.2:n.2286G>A
ENST00000315684.12:c.2371G>A ENSP00000313759.8:p.Asp791Asn
ENST00000449476.6:c.2266G>A ENSP00000396018.2:p.Asp756Asn
ENST00000449476.7:c.2266G>A ENSP00000396018.2:p.Asp756Asn
ENST00000578240.1:n.599G>A
ENST00000578537.1:c.267G>A
ENST00000580299.2:c.2371G>A ENSP00000462607.2:p.Asp791Asn
ENST00000581671.2:n.2360G>A
ENST00000581729.2:c.2371G>A ENSP00000462720.2:p.Asp791Asn
ENST00000581967.2:n.2823G>A
ENST00000583254.2:n.3077G>A
ENST00000643543.1:c.*1078G>A ENSP00000494323.1:n.*1078G>A
ENST00000699849.1:c.1474G>A ENSP00000514647.1:p.Asp492Asn
ENST00000699850.1:n.1634G>A
ENST00000699851.1:n.2393G>A
ENST00000699852.1:c.*1047G>A ENSP00000514648.1:n.*1047G>A
ENST00000699853.1:c.2371G>A ENSP00000514649.1:p.Asp791Asn
ENST00000699854.1:n.2164G>A
ENST00000699855.1:n.2823G>A
ENST00000699856.1:c.2371G>A ENSP00000514650.1:p.Asp791Asn
ENST00000699857.1:n.2379G>A
ENST00000699858.1:c.*984G>A ENSP00000514651.1:n.*984G>A
ENST00000699859.1:c.2242G>A ENSP00000514652.1:p.Asp748Asn
ENST00000699860.1:n.477G>A
ENST00000699861.1:n.2393G>A
ENST00000699862.1:n.3331G>A
XM_006721577.2:c.2242G>A XP_006721640.1:p.Asp748Asn
XM_006721577.3:c.2242G>A XP_006721640.1:p.Asp748Asn
XM_006721578.2:c.2371G>A XP_006721641.1:p.Asp791Asn
XM_006721578.3:c.2371G>A XP_006721641.1:p.Asp791Asn
XM_006721579.2:c.2371G>A XP_006721642.1:p.Asp791Asn
XM_011524010.1:c.2266G>A XP_011522312.1:p.Asp756Asn
XM_011524010.2:c.2266G>A XP_011522312.1:p.Asp756Asn
XM_011524011.1:c.1474G>A XP_011522313.1:p.Asp492Asn
XM_011524011.2:c.1474G>A XP_011522313.1:p.Asp492Asn
XR_001752639.1:n.2285G>A
XR_001752640.1:n.2414G>A
XR_001752641.1:n.2414G>A
XR_001752642.1:n.2414G>A
XR_001752643.1:n.2844G>A
XR_002958073.1:n.2414G>A
XR_429823.2:n.2414G>A
XR_429823.3:n.2414G>A
XR_429824.2:n.2414G>A
XR_429824.3:n.2414G>A
XR_429825.1:n.2414G>A