Canonical Allele Identifier: CA10640972
Community Standard Title: NM_025099.6(CTC1):c.*2087A>G
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8226093T>C , CM000679.2:g.8226093T>C GRCh38
NC_000017.10:g.8129411T>C , CM000679.1:g.8129411T>C GRCh37
NC_000017.9:g.8070136T>C NCBI36
NG_032148.1:g.27003A>G
NG_032148.2:g.27003A>G

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.*2087A>G MANE Select NP_079375.3:n.*2087A>G
ENST00000651323.1:c.*2087A>G MANE Select ENSP00000498499.1:n.*2087A>G
NM_025099.5:c.*2087A>G NP_079375.3:n.*2087A>G
NR_046431.1:n.5630A>G
NR_046431.2:n.5591A>G
ENST00000315684.12:c.*2087A>G ENSP00000313759.8:n.*2087A>G
XM_006721577.2:c.*2087A>G XP_006721640.1:n.*2087A>G
XM_006721577.3:c.*2087A>G XP_006721640.1:n.*2087A>G
XM_006721578.2:c.*2087A>G XP_006721641.1:n.*2087A>G
XM_006721578.3:c.*2087A>G XP_006721641.1:n.*2087A>G
XM_011524010.1:c.*2087A>G XP_011522312.1:n.*2087A>G
XM_011524010.2:c.*2087A>G XP_011522312.1:n.*2087A>G
XM_011524011.1:c.*2087A>G XP_011522313.1:n.*2087A>G
XM_011524011.2:c.*2087A>G XP_011522313.1:n.*2087A>G
XR_001752639.1:n.5592A>G
XR_001752640.1:n.5740A>G
XR_001752641.1:n.5675A>G
XR_001752642.1:n.5525A>G
XR_002958073.1:n.6031A>G
XR_429823.2:n.5618A>G
XR_429823.3:n.5618A>G
XR_429824.2:n.5719A>G
XR_429824.3:n.5719A>G