Canonical Allele Identifier: CA434873047

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758121-T-G
• MyVariant Identifiers: chr3:g.101476965T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758121T>G , CM000665.2:g.101758121T>G	GRCh38
NC_000003.11:g.101476965T>G , CM000665.1:g.101476965T>G	GRCh37
NC_000003.10:g.102959655T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1150T>G	ENSP00000419009.1:n.*1150T>G
ENST00000467655.2:c.*602T>G	ENSP00000418547.2:n.*602T>G
ENST00000704365.1:c.1515T>G	ENSP00000515873.1:p.Pro505=
ENST00000704366.1:c.1413T>G	ENSP00000515874.1:p.Pro471=
ENST00000704367.1:c.1236T>G	ENSP00000515875.1:p.Pro412=
ENST00000704368.1:n.2008T>G
ENST00000704369.1:c.1029T>G	ENSP00000515876.1:p.Pro343=
ENST00000704370.1:c.1509T>G	ENSP00000515877.1:p.Pro503=
ENST00000704372.1:n.1869T>G
ENST00000704444.1:c.1299T>G	ENSP00000515896.1:p.Pro433=
ENST00000704445.1:c.1167T>G	ENSP00000515897.1:p.Pro389=
ENST00000704446.1:c.1048+925T>G	ENSP00000515898.1:n.1048+925T>G
ENST00000341893.8:c.1515T>G MANE Select	ENSP00000342510.3:p.Pro505=
ENST00000341893.7:c.1515T>G	ENSP00000342510.3:p.Pro505=
ENST00000467655.1:c.1130T>G	ENSP00000418547.1:n.1130T>G
ENST00000489172.5:n.1497T>G
ENST00000494050.5:c.1338T>G	ENSP00000418185.1:p.Pro446=
NM_001303401.1:c.1338T>G	NP_001290330.1:p.Pro446=
NM_024548.3:c.1515T>G	NP_078824.2:p.Pro505=
XM_006713743.2:c.1413T>G	XP_006713806.1:p.Pro471=
XM_011513125.1:c.1299T>G	XP_011511427.1:p.Pro433=
XM_011513126.1:c.1299T>G	XP_011511428.1:p.Pro433=
XM_011513127.1:c.1167T>G	XP_011511429.1:p.Pro389=
XM_006713743.4:c.1413T>G	XP_006713806.1:p.Pro471=
XM_017007178.2:c.1236T>G	XP_016862667.1:p.Pro412=
NM_024548.4:c.1515T>G MANE Select	NP_078824.2:p.Pro505=
NM_001303401.2:c.1338T>G	NP_001290330.1:p.Pro446=