Canonical Allele Identifier: CA10651328
Community Standard Title: NM_025099.6(CTC1):c.*3186G>A
Gene: CTC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8224994C>T , CM000679.2:g.8224994C>T GRCh38
NC_000017.10:g.8128312C>T , CM000679.1:g.8128312C>T GRCh37
NC_000017.9:g.8069037C>T NCBI36
NG_032148.1:g.28102G>A
NG_032148.2:g.28102G>A

Transcript Alleles

HGVS Amino-acid Change
NM_025099.6:c.*3186G>A MANE Select NP_079375.3:n.*3186G>A
ENST00000651323.1:c.*3186G>A MANE Select ENSP00000498499.1:n.*3186G>A
NM_025099.5:c.*3186G>A NP_079375.3:n.*3186G>A
NR_046431.1:n.6729G>A
NR_046431.2:n.6690G>A
ENST00000315684.12:c.*3186G>A ENSP00000313759.8:n.*3186G>A
XM_006721577.3:c.*3186G>A XP_006721640.1:n.*3186G>A
XM_006721578.3:c.*3186G>A XP_006721641.1:n.*3186G>A
XM_011524010.2:c.*3186G>A XP_011522312.1:n.*3186G>A
XM_011524011.2:c.*3186G>A XP_011522313.1:n.*3186G>A
XR_001752639.1:n.6691G>A
XR_001752640.1:n.6839G>A
XR_001752641.1:n.6774G>A
XR_001752642.1:n.6624G>A
XR_002958073.1:n.7130G>A
XR_429823.3:n.6717G>A
XR_429824.3:n.6818G>A