Canonical Allele Identifier: CA353877125

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476697C>A (hg19) ; chr3:g.101757853C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757853C>A , CM000665.2:g.101757853C>A	GRCh38
NC_000003.11:g.101476697C>A , CM000665.1:g.101476697C>A	GRCh37
NC_000003.10:g.102959387C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*882C>A	ENSP00000419009.1:n.*882C>A
ENST00000467655.2:c.*334C>A	ENSP00000418547.2:n.*334C>A
ENST00000704365.1:c.1247C>A	ENSP00000515873.1:p.Ser416Ter
ENST00000704366.1:c.1145C>A	ENSP00000515874.1:p.Ser382Ter
ENST00000704367.1:c.968C>A	ENSP00000515875.1:p.Ser323Ter
ENST00000704368.1:n.1740C>A
ENST00000704369.1:c.761C>A	ENSP00000515876.1:p.Ser254Ter
ENST00000704370.1:c.1241C>A	ENSP00000515877.1:p.Ser414Ter
ENST00000704372.1:n.1601C>A
ENST00000704444.1:c.1031C>A	ENSP00000515896.1:p.Ser344Ter
ENST00000704445.1:c.899C>A	ENSP00000515897.1:p.Ser300Ter
ENST00000704446.1:c.1048+657C>A	ENSP00000515898.1:n.1048+657C>A
ENST00000341893.8:c.1247C>A MANE Select	ENSP00000342510.3:p.Ser416Ter
ENST00000341893.7:c.1247C>A	ENSP00000342510.3:p.Ser416Ter
ENST00000467655.1:c.862C>A	ENSP00000418547.1:n.862C>A
ENST00000489172.5:n.1229C>A
ENST00000494050.5:c.1070C>A	ENSP00000418185.1:p.Ser357Ter
NM_001303401.1:c.1070C>A	NP_001290330.1:p.Ser357Ter
NM_024548.3:c.1247C>A	NP_078824.2:p.Ser416Ter
XM_006713743.2:c.1145C>A	XP_006713806.1:p.Ser382Ter
XM_011513125.1:c.1031C>A	XP_011511427.1:p.Ser344Ter
XM_011513126.1:c.1031C>A	XP_011511428.1:p.Ser344Ter
XM_011513127.1:c.899C>A	XP_011511429.1:p.Ser300Ter
XM_006713743.4:c.1145C>A	XP_006713806.1:p.Ser382Ter
XM_017007178.2:c.968C>A	XP_016862667.1:p.Ser323Ter
NM_024548.4:c.1247C>A MANE Select	NP_078824.2:p.Ser416Ter
NM_001303401.2:c.1070C>A	NP_001290330.1:p.Ser357Ter