Canonical Allele Identifier: CA353877620

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476903C>G (hg19) ; chr3:g.101758059C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758059C>G , CM000665.2:g.101758059C>G	GRCh38
NC_000003.11:g.101476903C>G , CM000665.1:g.101476903C>G	GRCh37
NC_000003.10:g.102959593C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1088C>G	ENSP00000419009.1:n.*1088C>G
ENST00000467655.2:c.*540C>G	ENSP00000418547.2:n.*540C>G
ENST00000704365.1:c.1453C>G	ENSP00000515873.1:p.Pro485Ala
ENST00000704366.1:c.1351C>G	ENSP00000515874.1:p.Pro451Ala
ENST00000704367.1:c.1174C>G	ENSP00000515875.1:p.Pro392Ala
ENST00000704368.1:n.1946C>G
ENST00000704369.1:c.967C>G	ENSP00000515876.1:p.Pro323Ala
ENST00000704370.1:c.1447C>G	ENSP00000515877.1:p.Pro483Ala
ENST00000704372.1:n.1807C>G
ENST00000704444.1:c.1237C>G	ENSP00000515896.1:p.Pro413Ala
ENST00000704445.1:c.1105C>G	ENSP00000515897.1:p.Pro369Ala
ENST00000704446.1:c.1048+863C>G	ENSP00000515898.1:n.1048+863C>G
ENST00000341893.8:c.1453C>G MANE Select	ENSP00000342510.3:p.Pro485Ala
ENST00000341893.7:c.1453C>G	ENSP00000342510.3:p.Pro485Ala
ENST00000467655.1:c.1068C>G	ENSP00000418547.1:n.1068C>G
ENST00000489172.5:n.1435C>G
ENST00000494050.5:c.1276C>G	ENSP00000418185.1:p.Pro426Ala
NM_001303401.1:c.1276C>G	NP_001290330.1:p.Pro426Ala
NM_024548.3:c.1453C>G	NP_078824.2:p.Pro485Ala
XM_006713743.2:c.1351C>G	XP_006713806.1:p.Pro451Ala
XM_011513125.1:c.1237C>G	XP_011511427.1:p.Pro413Ala
XM_011513126.1:c.1237C>G	XP_011511428.1:p.Pro413Ala
XM_011513127.1:c.1105C>G	XP_011511429.1:p.Pro369Ala
XM_006713743.4:c.1351C>G	XP_006713806.1:p.Pro451Ala
XM_017007178.2:c.1174C>G	XP_016862667.1:p.Pro392Ala
NM_024548.4:c.1453C>G MANE Select	NP_078824.2:p.Pro485Ala
NM_001303401.2:c.1276C>G	NP_001290330.1:p.Pro426Ala