Canonical Allele Identifier: CA353877348

Gene: CEP97

Linked Data

• dbSNP Id: rs1276069695
• gnomAD v2: 3-101476784-G-A
• gnomAD v3: 3-101757940-G-A
• gnomAD v4: 3-101757940-G-A
• MyVariant Identifiers: chr3:g.101476784G>A (hg19) ; chr3:g.101757940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757940G>A , CM000665.2:g.101757940G>A	GRCh38
NC_000003.11:g.101476784G>A , CM000665.1:g.101476784G>A	GRCh37
NC_000003.10:g.102959474G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*969G>A	ENSP00000419009.1:n.*969G>A
ENST00000467655.2:c.*421G>A	ENSP00000418547.2:n.*421G>A
ENST00000704365.1:c.1334G>A	ENSP00000515873.1:p.Ser445Asn
ENST00000704366.1:c.1232G>A	ENSP00000515874.1:p.Ser411Asn
ENST00000704367.1:c.1055G>A	ENSP00000515875.1:p.Ser352Asn
ENST00000704368.1:n.1827G>A
ENST00000704369.1:c.848G>A	ENSP00000515876.1:p.Ser283Asn
ENST00000704370.1:c.1328G>A	ENSP00000515877.1:p.Ser443Asn
ENST00000704372.1:n.1688G>A
ENST00000704444.1:c.1118G>A	ENSP00000515896.1:p.Ser373Asn
ENST00000704445.1:c.986G>A	ENSP00000515897.1:p.Ser329Asn
ENST00000704446.1:c.1048+744G>A	ENSP00000515898.1:n.1048+744G>A
ENST00000341893.8:c.1334G>A MANE Select	ENSP00000342510.3:p.Ser445Asn
ENST00000341893.7:c.1334G>A	ENSP00000342510.3:p.Ser445Asn
ENST00000467655.1:c.949G>A	ENSP00000418547.1:n.949G>A
ENST00000489172.5:n.1316G>A
ENST00000494050.5:c.1157G>A	ENSP00000418185.1:p.Ser386Asn
NM_001303401.1:c.1157G>A	NP_001290330.1:p.Ser386Asn
NM_024548.3:c.1334G>A	NP_078824.2:p.Ser445Asn
XM_006713743.2:c.1232G>A	XP_006713806.1:p.Ser411Asn
XM_011513125.1:c.1118G>A	XP_011511427.1:p.Ser373Asn
XM_011513126.1:c.1118G>A	XP_011511428.1:p.Ser373Asn
XM_011513127.1:c.986G>A	XP_011511429.1:p.Ser329Asn
XM_006713743.4:c.1232G>A	XP_006713806.1:p.Ser411Asn
XM_017007178.2:c.1055G>A	XP_016862667.1:p.Ser352Asn
NM_024548.4:c.1334G>A MANE Select	NP_078824.2:p.Ser445Asn
NM_001303401.2:c.1157G>A	NP_001290330.1:p.Ser386Asn