Canonical Allele Identifier: CA353877049

Gene: CEP97

Linked Data

• dbSNP Id: rs1172100591
• MyVariant Identifiers: chr3:g.101476679C>T (hg19) ; chr3:g.101757835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757835C>T , CM000665.2:g.101757835C>T	GRCh38
NC_000003.11:g.101476679C>T , CM000665.1:g.101476679C>T	GRCh37
NC_000003.10:g.102959369C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*864C>T	ENSP00000419009.1:n.*864C>T
ENST00000467655.2:c.*316C>T	ENSP00000418547.2:n.*316C>T
ENST00000704365.1:c.1229C>T	ENSP00000515873.1:p.Ser410Leu
ENST00000704366.1:c.1127C>T	ENSP00000515874.1:p.Ser376Leu
ENST00000704367.1:c.950C>T	ENSP00000515875.1:p.Ser317Leu
ENST00000704368.1:n.1722C>T
ENST00000704369.1:c.743C>T	ENSP00000515876.1:p.Ser248Leu
ENST00000704370.1:c.1223C>T	ENSP00000515877.1:p.Ser408Leu
ENST00000704372.1:n.1583C>T
ENST00000704444.1:c.1013C>T	ENSP00000515896.1:p.Ser338Leu
ENST00000704445.1:c.881C>T	ENSP00000515897.1:p.Ser294Leu
ENST00000704446.1:c.1048+639C>T	ENSP00000515898.1:n.1048+639C>T
ENST00000341893.8:c.1229C>T MANE Select	ENSP00000342510.3:p.Ser410Leu
ENST00000341893.7:c.1229C>T	ENSP00000342510.3:p.Ser410Leu
ENST00000467655.1:c.844C>T	ENSP00000418547.1:n.844C>T
ENST00000489172.5:n.1211C>T
ENST00000494050.5:c.1052C>T	ENSP00000418185.1:p.Ser351Leu
NM_001303401.1:c.1052C>T	NP_001290330.1:p.Ser351Leu
NM_024548.3:c.1229C>T	NP_078824.2:p.Ser410Leu
XM_006713743.2:c.1127C>T	XP_006713806.1:p.Ser376Leu
XM_011513125.1:c.1013C>T	XP_011511427.1:p.Ser338Leu
XM_011513126.1:c.1013C>T	XP_011511428.1:p.Ser338Leu
XM_011513127.1:c.881C>T	XP_011511429.1:p.Ser294Leu
XM_006713743.4:c.1127C>T	XP_006713806.1:p.Ser376Leu
XM_017007178.2:c.950C>T	XP_016862667.1:p.Ser317Leu
NM_024548.4:c.1229C>T MANE Select	NP_078824.2:p.Ser410Leu
NM_001303401.2:c.1052C>T	NP_001290330.1:p.Ser351Leu