Canonical Allele Identifier: CA353875949

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476504G>T (hg19) ; chr3:g.101757660G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757660G>T , CM000665.2:g.101757660G>T	GRCh38
NC_000003.11:g.101476504G>T , CM000665.1:g.101476504G>T	GRCh37
NC_000003.10:g.102959194G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*689G>T	ENSP00000419009.1:n.*689G>T
ENST00000467655.2:c.*141G>T	ENSP00000418547.2:n.*141G>T
ENST00000704365.1:c.1054G>T	ENSP00000515873.1:p.Val352Phe
ENST00000704366.1:c.952G>T	ENSP00000515874.1:p.Val318Phe
ENST00000704367.1:c.926-151G>T	ENSP00000515875.1:n.926-151G>T
ENST00000704368.1:n.1547G>T
ENST00000704369.1:c.568G>T	ENSP00000515876.1:p.Val190Phe
ENST00000704370.1:c.1048G>T	ENSP00000515877.1:p.Val350Phe
ENST00000704372.1:n.1408G>T
ENST00000704444.1:c.838G>T	ENSP00000515896.1:p.Val280Phe
ENST00000704445.1:c.706G>T	ENSP00000515897.1:p.Val236Phe
ENST00000704446.1:c.1048+464G>T	ENSP00000515898.1:n.1048+464G>T
ENST00000341893.8:c.1054G>T MANE Select	ENSP00000342510.3:p.Val352Phe
ENST00000341893.7:c.1054G>T	ENSP00000342510.3:p.Val352Phe
ENST00000467655.1:c.669G>T	ENSP00000418547.1:n.669G>T
ENST00000489172.5:n.1036G>T
ENST00000494050.5:c.1028-151G>T	ENSP00000418185.1:n.1028-151G>T
NM_001303401.1:c.1028-151G>T	NP_001290330.1:n.1028-151G>T
NM_024548.3:c.1054G>T	NP_078824.2:p.Val352Phe
XM_006713743.2:c.952G>T	XP_006713806.1:p.Val318Phe
XM_011513125.1:c.838G>T	XP_011511427.1:p.Val280Phe
XM_011513126.1:c.838G>T	XP_011511428.1:p.Val280Phe
XM_011513127.1:c.706G>T	XP_011511429.1:p.Val236Phe
XM_006713743.4:c.952G>T	XP_006713806.1:p.Val318Phe
XM_017007178.2:c.926-151G>T	XP_016862667.1:n.926-151G>T
NM_024548.4:c.1054G>T MANE Select	NP_078824.2:p.Val352Phe
NM_001303401.2:c.1028-151G>T	NP_001290330.1:n.1028-151G>T