Canonical Allele Identifier: CA434873023

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476707T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757863T>G , CM000665.2:g.101757863T>G	GRCh38
NC_000003.11:g.101476707T>G , CM000665.1:g.101476707T>G	GRCh37
NC_000003.10:g.102959397T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*892T>G	ENSP00000419009.1:n.*892T>G
ENST00000467655.2:c.*344T>G	ENSP00000418547.2:n.*344T>G
ENST00000704365.1:c.1257T>G	ENSP00000515873.1:p.Val419=
ENST00000704366.1:c.1155T>G	ENSP00000515874.1:p.Val385=
ENST00000704367.1:c.978T>G	ENSP00000515875.1:p.Val326=
ENST00000704368.1:n.1750T>G
ENST00000704369.1:c.771T>G	ENSP00000515876.1:p.Val257=
ENST00000704370.1:c.1251T>G	ENSP00000515877.1:p.Val417=
ENST00000704372.1:n.1611T>G
ENST00000704444.1:c.1041T>G	ENSP00000515896.1:p.Val347=
ENST00000704445.1:c.909T>G	ENSP00000515897.1:p.Val303=
ENST00000704446.1:c.1048+667T>G	ENSP00000515898.1:n.1048+667T>G
ENST00000341893.8:c.1257T>G MANE Select	ENSP00000342510.3:p.Val419=
ENST00000341893.7:c.1257T>G	ENSP00000342510.3:p.Val419=
ENST00000467655.1:c.872T>G	ENSP00000418547.1:n.872T>G
ENST00000489172.5:n.1239T>G
ENST00000494050.5:c.1080T>G	ENSP00000418185.1:p.Val360=
NM_001303401.1:c.1080T>G	NP_001290330.1:p.Val360=
NM_024548.3:c.1257T>G	NP_078824.2:p.Val419=
XM_006713743.2:c.1155T>G	XP_006713806.1:p.Val385=
XM_011513125.1:c.1041T>G	XP_011511427.1:p.Val347=
XM_011513126.1:c.1041T>G	XP_011511428.1:p.Val347=
XM_011513127.1:c.909T>G	XP_011511429.1:p.Val303=
XM_006713743.4:c.1155T>G	XP_006713806.1:p.Val385=
XM_017007178.2:c.978T>G	XP_016862667.1:p.Val326=
NM_024548.4:c.1257T>G MANE Select	NP_078824.2:p.Val419=
NM_001303401.2:c.1080T>G	NP_001290330.1:p.Val360=