Canonical Allele Identifier: CA353876426

Gene: CEP97

Linked Data

• dbSNP Id: rs1448829455
• gnomAD v2: 3-101476583-C-A
• gnomAD v3: 3-101757739-C-A
• gnomAD v4: 3-101757739-C-A
• MyVariant Identifiers: chr3:g.101476583C>A (hg19) ; chr3:g.101757739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757739C>A , CM000665.2:g.101757739C>A	GRCh38
NC_000003.11:g.101476583C>A , CM000665.1:g.101476583C>A	GRCh37
NC_000003.10:g.102959273C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*768C>A	ENSP00000419009.1:n.*768C>A
ENST00000467655.2:c.*220C>A	ENSP00000418547.2:n.*220C>A
ENST00000704365.1:c.1133C>A	ENSP00000515873.1:p.Ser378Tyr
ENST00000704366.1:c.1031C>A	ENSP00000515874.1:p.Ser344Tyr
ENST00000704367.1:c.926-72C>A	ENSP00000515875.1:n.926-72C>A
ENST00000704368.1:n.1626C>A
ENST00000704369.1:c.647C>A	ENSP00000515876.1:p.Ser216Tyr
ENST00000704370.1:c.1127C>A	ENSP00000515877.1:p.Ser376Tyr
ENST00000704372.1:n.1487C>A
ENST00000704444.1:c.917C>A	ENSP00000515896.1:p.Ser306Tyr
ENST00000704445.1:c.785C>A	ENSP00000515897.1:p.Ser262Tyr
ENST00000704446.1:c.1048+543C>A	ENSP00000515898.1:n.1048+543C>A
ENST00000341893.8:c.1133C>A MANE Select	ENSP00000342510.3:p.Ser378Tyr
ENST00000341893.7:c.1133C>A	ENSP00000342510.3:p.Ser378Tyr
ENST00000467655.1:c.748C>A	ENSP00000418547.1:n.748C>A
ENST00000489172.5:n.1115C>A
ENST00000494050.5:c.1028-72C>A	ENSP00000418185.1:n.1028-72C>A
NM_001303401.1:c.1028-72C>A	NP_001290330.1:n.1028-72C>A
NM_024548.3:c.1133C>A	NP_078824.2:p.Ser378Tyr
XM_006713743.2:c.1031C>A	XP_006713806.1:p.Ser344Tyr
XM_011513125.1:c.917C>A	XP_011511427.1:p.Ser306Tyr
XM_011513126.1:c.917C>A	XP_011511428.1:p.Ser306Tyr
XM_011513127.1:c.785C>A	XP_011511429.1:p.Ser262Tyr
XM_006713743.4:c.1031C>A	XP_006713806.1:p.Ser344Tyr
XM_017007178.2:c.926-72C>A	XP_016862667.1:n.926-72C>A
NM_024548.4:c.1133C>A MANE Select	NP_078824.2:p.Ser378Tyr
NM_001303401.2:c.1028-72C>A	NP_001290330.1:n.1028-72C>A