Canonical Allele Identifier: CA2522131

Gene: CEP97

Linked Data

• dbSNP Id: rs746506760
• ExAC: 3:101476909 C / T
• gnomAD v2: 3-101476909-C-T
• gnomAD v4: 3-101758065-C-T
• MyVariant Identifiers: chr3:g.101476909C>T (hg19) ; chr3:g.101758065C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758065C>T , CM000665.2:g.101758065C>T	GRCh38
NC_000003.11:g.101476909C>T , CM000665.1:g.101476909C>T	GRCh37
NC_000003.10:g.102959599C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1094C>T	ENSP00000419009.1:n.*1094C>T
ENST00000467655.2:c.*546C>T	ENSP00000418547.2:n.*546C>T
ENST00000704365.1:c.1459C>T	ENSP00000515873.1:p.Pro487Ser
ENST00000704366.1:c.1357C>T	ENSP00000515874.1:p.Pro453Ser
ENST00000704367.1:c.1180C>T	ENSP00000515875.1:p.Pro394Ser
ENST00000704368.1:n.1952C>T
ENST00000704369.1:c.973C>T	ENSP00000515876.1:p.Pro325Ser
ENST00000704370.1:c.1453C>T	ENSP00000515877.1:p.Pro485Ser
ENST00000704372.1:n.1813C>T
ENST00000704444.1:c.1243C>T	ENSP00000515896.1:p.Pro415Ser
ENST00000704445.1:c.1111C>T	ENSP00000515897.1:p.Pro371Ser
ENST00000704446.1:c.1048+869C>T	ENSP00000515898.1:n.1048+869C>T
ENST00000341893.8:c.1459C>T MANE Select	ENSP00000342510.3:p.Pro487Ser
ENST00000341893.7:c.1459C>T	ENSP00000342510.3:p.Pro487Ser
ENST00000467655.1:c.1074C>T	ENSP00000418547.1:n.1074C>T
ENST00000489172.5:n.1441C>T
ENST00000494050.5:c.1282C>T	ENSP00000418185.1:p.Pro428Ser
NM_001303401.1:c.1282C>T	NP_001290330.1:p.Pro428Ser
NM_024548.3:c.1459C>T	NP_078824.2:p.Pro487Ser
XM_006713743.2:c.1357C>T	XP_006713806.1:p.Pro453Ser
XM_011513125.1:c.1243C>T	XP_011511427.1:p.Pro415Ser
XM_011513126.1:c.1243C>T	XP_011511428.1:p.Pro415Ser
XM_011513127.1:c.1111C>T	XP_011511429.1:p.Pro371Ser
XM_006713743.4:c.1357C>T	XP_006713806.1:p.Pro453Ser
XM_017007178.2:c.1180C>T	XP_016862667.1:p.Pro394Ser
NM_024548.4:c.1459C>T MANE Select	NP_078824.2:p.Pro487Ser
NM_001303401.2:c.1282C>T	NP_001290330.1:p.Pro428Ser