Canonical Allele Identifier: CA353876496

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757750-C-G
• MyVariant Identifiers: chr3:g.101476594C>G (hg19) ; chr3:g.101757750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757750C>G , CM000665.2:g.101757750C>G	GRCh38
NC_000003.11:g.101476594C>G , CM000665.1:g.101476594C>G	GRCh37
NC_000003.10:g.102959284C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*779C>G	ENSP00000419009.1:n.*779C>G
ENST00000467655.2:c.*231C>G	ENSP00000418547.2:n.*231C>G
ENST00000704365.1:c.1144C>G	ENSP00000515873.1:p.Leu382Val
ENST00000704366.1:c.1042C>G	ENSP00000515874.1:p.Leu348Val
ENST00000704367.1:c.926-61C>G	ENSP00000515875.1:n.926-61C>G
ENST00000704368.1:n.1637C>G
ENST00000704369.1:c.658C>G	ENSP00000515876.1:p.Leu220Val
ENST00000704370.1:c.1138C>G	ENSP00000515877.1:p.Leu380Val
ENST00000704372.1:n.1498C>G
ENST00000704444.1:c.928C>G	ENSP00000515896.1:p.Leu310Val
ENST00000704445.1:c.796C>G	ENSP00000515897.1:p.Leu266Val
ENST00000704446.1:c.1048+554C>G	ENSP00000515898.1:n.1048+554C>G
ENST00000341893.8:c.1144C>G MANE Select	ENSP00000342510.3:p.Leu382Val
ENST00000341893.7:c.1144C>G	ENSP00000342510.3:p.Leu382Val
ENST00000467655.1:c.759C>G	ENSP00000418547.1:n.759C>G
ENST00000489172.5:n.1126C>G
ENST00000494050.5:c.1028-61C>G	ENSP00000418185.1:n.1028-61C>G
NM_001303401.1:c.1028-61C>G	NP_001290330.1:n.1028-61C>G
NM_024548.3:c.1144C>G	NP_078824.2:p.Leu382Val
XM_006713743.2:c.1042C>G	XP_006713806.1:p.Leu348Val
XM_011513125.1:c.928C>G	XP_011511427.1:p.Leu310Val
XM_011513126.1:c.928C>G	XP_011511428.1:p.Leu310Val
XM_011513127.1:c.796C>G	XP_011511429.1:p.Leu266Val
XM_006713743.4:c.1042C>G	XP_006713806.1:p.Leu348Val
XM_017007178.2:c.926-61C>G	XP_016862667.1:n.926-61C>G
NM_024548.4:c.1144C>G MANE Select	NP_078824.2:p.Leu382Val
NM_001303401.2:c.1028-61C>G	NP_001290330.1:n.1028-61C>G