Canonical Allele Identifier: CA353877362

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476790T>A (hg19) ; chr3:g.101757946T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757946T>A , CM000665.2:g.101757946T>A	GRCh38
NC_000003.11:g.101476790T>A , CM000665.1:g.101476790T>A	GRCh37
NC_000003.10:g.102959480T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*975T>A	ENSP00000419009.1:n.*975T>A
ENST00000467655.2:c.*427T>A	ENSP00000418547.2:n.*427T>A
ENST00000704365.1:c.1340T>A	ENSP00000515873.1:p.Val447Glu
ENST00000704366.1:c.1238T>A	ENSP00000515874.1:p.Val413Glu
ENST00000704367.1:c.1061T>A	ENSP00000515875.1:p.Val354Glu
ENST00000704368.1:n.1833T>A
ENST00000704369.1:c.854T>A	ENSP00000515876.1:p.Val285Glu
ENST00000704370.1:c.1334T>A	ENSP00000515877.1:p.Val445Glu
ENST00000704372.1:n.1694T>A
ENST00000704444.1:c.1124T>A	ENSP00000515896.1:p.Val375Glu
ENST00000704445.1:c.992T>A	ENSP00000515897.1:p.Val331Glu
ENST00000704446.1:c.1048+750T>A	ENSP00000515898.1:n.1048+750T>A
ENST00000341893.8:c.1340T>A MANE Select	ENSP00000342510.3:p.Val447Glu
ENST00000341893.7:c.1340T>A	ENSP00000342510.3:p.Val447Glu
ENST00000467655.1:c.955T>A	ENSP00000418547.1:n.955T>A
ENST00000489172.5:n.1322T>A
ENST00000494050.5:c.1163T>A	ENSP00000418185.1:p.Val388Glu
NM_001303401.1:c.1163T>A	NP_001290330.1:p.Val388Glu
NM_024548.3:c.1340T>A	NP_078824.2:p.Val447Glu
XM_006713743.2:c.1238T>A	XP_006713806.1:p.Val413Glu
XM_011513125.1:c.1124T>A	XP_011511427.1:p.Val375Glu
XM_011513126.1:c.1124T>A	XP_011511428.1:p.Val375Glu
XM_011513127.1:c.992T>A	XP_011511429.1:p.Val331Glu
XM_006713743.4:c.1238T>A	XP_006713806.1:p.Val413Glu
XM_017007178.2:c.1061T>A	XP_016862667.1:p.Val354Glu
NM_024548.4:c.1340T>A MANE Select	NP_078824.2:p.Val447Glu
NM_001303401.2:c.1163T>A	NP_001290330.1:p.Val388Glu