Canonical Allele Identifier: CA353876540

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476601T>G (hg19) ; chr3:g.101757757T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757757T>G , CM000665.2:g.101757757T>G	GRCh38
NC_000003.11:g.101476601T>G , CM000665.1:g.101476601T>G	GRCh37
NC_000003.10:g.102959291T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*786T>G	ENSP00000419009.1:n.*786T>G
ENST00000467655.2:c.*238T>G	ENSP00000418547.2:n.*238T>G
ENST00000704365.1:c.1151T>G	ENSP00000515873.1:p.Leu384Arg
ENST00000704366.1:c.1049T>G	ENSP00000515874.1:p.Leu350Arg
ENST00000704367.1:c.926-54T>G	ENSP00000515875.1:n.926-54T>G
ENST00000704368.1:n.1644T>G
ENST00000704369.1:c.665T>G	ENSP00000515876.1:p.Leu222Arg
ENST00000704370.1:c.1145T>G	ENSP00000515877.1:p.Leu382Arg
ENST00000704372.1:n.1505T>G
ENST00000704444.1:c.935T>G	ENSP00000515896.1:p.Leu312Arg
ENST00000704445.1:c.803T>G	ENSP00000515897.1:p.Leu268Arg
ENST00000704446.1:c.1048+561T>G	ENSP00000515898.1:n.1048+561T>G
ENST00000341893.8:c.1151T>G MANE Select	ENSP00000342510.3:p.Leu384Arg
ENST00000341893.7:c.1151T>G	ENSP00000342510.3:p.Leu384Arg
ENST00000467655.1:c.766T>G	ENSP00000418547.1:n.766T>G
ENST00000489172.5:n.1133T>G
ENST00000494050.5:c.1028-54T>G	ENSP00000418185.1:n.1028-54T>G
NM_001303401.1:c.1028-54T>G	NP_001290330.1:n.1028-54T>G
NM_024548.3:c.1151T>G	NP_078824.2:p.Leu384Arg
XM_006713743.2:c.1049T>G	XP_006713806.1:p.Leu350Arg
XM_011513125.1:c.935T>G	XP_011511427.1:p.Leu312Arg
XM_011513126.1:c.935T>G	XP_011511428.1:p.Leu312Arg
XM_011513127.1:c.803T>G	XP_011511429.1:p.Leu268Arg
XM_006713743.4:c.1049T>G	XP_006713806.1:p.Leu350Arg
XM_017007178.2:c.926-54T>G	XP_016862667.1:n.926-54T>G
NM_024548.4:c.1151T>G MANE Select	NP_078824.2:p.Leu384Arg
NM_001303401.2:c.1028-54T>G	NP_001290330.1:n.1028-54T>G