Canonical Allele Identifier: CA353877413

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476811A>T (hg19) ; chr3:g.101757967A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757967A>T , CM000665.2:g.101757967A>T	GRCh38
NC_000003.11:g.101476811A>T , CM000665.1:g.101476811A>T	GRCh37
NC_000003.10:g.102959501A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*996A>T	ENSP00000419009.1:n.*996A>T
ENST00000467655.2:c.*448A>T	ENSP00000418547.2:n.*448A>T
ENST00000704365.1:c.1361A>T	ENSP00000515873.1:p.Gln454Leu
ENST00000704366.1:c.1259A>T	ENSP00000515874.1:p.Gln420Leu
ENST00000704367.1:c.1082A>T	ENSP00000515875.1:p.Gln361Leu
ENST00000704368.1:n.1854A>T
ENST00000704369.1:c.875A>T	ENSP00000515876.1:p.Gln292Leu
ENST00000704370.1:c.1355A>T	ENSP00000515877.1:p.Gln452Leu
ENST00000704372.1:n.1715A>T
ENST00000704444.1:c.1145A>T	ENSP00000515896.1:p.Gln382Leu
ENST00000704445.1:c.1013A>T	ENSP00000515897.1:p.Gln338Leu
ENST00000704446.1:c.1048+771A>T	ENSP00000515898.1:n.1048+771A>T
ENST00000341893.8:c.1361A>T MANE Select	ENSP00000342510.3:p.Gln454Leu
ENST00000341893.7:c.1361A>T	ENSP00000342510.3:p.Gln454Leu
ENST00000467655.1:c.976A>T	ENSP00000418547.1:n.976A>T
ENST00000489172.5:n.1343A>T
ENST00000494050.5:c.1184A>T	ENSP00000418185.1:p.Gln395Leu
NM_001303401.1:c.1184A>T	NP_001290330.1:p.Gln395Leu
NM_024548.3:c.1361A>T	NP_078824.2:p.Gln454Leu
XM_006713743.2:c.1259A>T	XP_006713806.1:p.Gln420Leu
XM_011513125.1:c.1145A>T	XP_011511427.1:p.Gln382Leu
XM_011513126.1:c.1145A>T	XP_011511428.1:p.Gln382Leu
XM_011513127.1:c.1013A>T	XP_011511429.1:p.Gln338Leu
XM_006713743.4:c.1259A>T	XP_006713806.1:p.Gln420Leu
XM_017007178.2:c.1082A>T	XP_016862667.1:p.Gln361Leu
NM_024548.4:c.1361A>T MANE Select	NP_078824.2:p.Gln454Leu
NM_001303401.2:c.1184A>T	NP_001290330.1:p.Gln395Leu