Canonical Allele Identifier: CA353877488

Gene: CEP97

Linked Data

• dbSNP Id: rs1168467281
• gnomAD v2: 3-101476844-A-G
• gnomAD v3: 3-101758000-A-G
• gnomAD v4: 3-101758000-A-G
• MyVariant Identifiers: chr3:g.101476844A>G (hg19) ; chr3:g.101758000A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758000A>G , CM000665.2:g.101758000A>G	GRCh38
NC_000003.11:g.101476844A>G , CM000665.1:g.101476844A>G	GRCh37
NC_000003.10:g.102959534A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1029A>G	ENSP00000419009.1:n.*1029A>G
ENST00000467655.2:c.*481A>G	ENSP00000418547.2:n.*481A>G
ENST00000704365.1:c.1394A>G	ENSP00000515873.1:p.Gln465Arg
ENST00000704366.1:c.1292A>G	ENSP00000515874.1:p.Gln431Arg
ENST00000704367.1:c.1115A>G	ENSP00000515875.1:p.Gln372Arg
ENST00000704368.1:n.1887A>G
ENST00000704369.1:c.908A>G	ENSP00000515876.1:p.Gln303Arg
ENST00000704370.1:c.1388A>G	ENSP00000515877.1:p.Gln463Arg
ENST00000704372.1:n.1748A>G
ENST00000704444.1:c.1178A>G	ENSP00000515896.1:p.Gln393Arg
ENST00000704445.1:c.1046A>G	ENSP00000515897.1:p.Gln349Arg
ENST00000704446.1:c.1048+804A>G	ENSP00000515898.1:n.1048+804A>G
ENST00000341893.8:c.1394A>G MANE Select	ENSP00000342510.3:p.Gln465Arg
ENST00000341893.7:c.1394A>G	ENSP00000342510.3:p.Gln465Arg
ENST00000467655.1:c.1009A>G	ENSP00000418547.1:n.1009A>G
ENST00000489172.5:n.1376A>G
ENST00000494050.5:c.1217A>G	ENSP00000418185.1:p.Gln406Arg
NM_001303401.1:c.1217A>G	NP_001290330.1:p.Gln406Arg
NM_024548.3:c.1394A>G	NP_078824.2:p.Gln465Arg
XM_006713743.2:c.1292A>G	XP_006713806.1:p.Gln431Arg
XM_011513125.1:c.1178A>G	XP_011511427.1:p.Gln393Arg
XM_011513126.1:c.1178A>G	XP_011511428.1:p.Gln393Arg
XM_011513127.1:c.1046A>G	XP_011511429.1:p.Gln349Arg
XM_006713743.4:c.1292A>G	XP_006713806.1:p.Gln431Arg
XM_017007178.2:c.1115A>G	XP_016862667.1:p.Gln372Arg
NM_024548.4:c.1394A>G MANE Select	NP_078824.2:p.Gln465Arg
NM_001303401.2:c.1217A>G	NP_001290330.1:p.Gln406Arg