Canonical Allele Identifier: CA434873015

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757860-A-T
• MyVariant Identifiers: chr3:g.101476704A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757860A>T , CM000665.2:g.101757860A>T	GRCh38
NC_000003.11:g.101476704A>T , CM000665.1:g.101476704A>T	GRCh37
NC_000003.10:g.102959394A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*889A>T	ENSP00000419009.1:n.*889A>T
ENST00000467655.2:c.*341A>T	ENSP00000418547.2:n.*341A>T
ENST00000704365.1:c.1254A>T	ENSP00000515873.1:p.Thr418=
ENST00000704366.1:c.1152A>T	ENSP00000515874.1:p.Thr384=
ENST00000704367.1:c.975A>T	ENSP00000515875.1:p.Thr325=
ENST00000704368.1:n.1747A>T
ENST00000704369.1:c.768A>T	ENSP00000515876.1:p.Thr256=
ENST00000704370.1:c.1248A>T	ENSP00000515877.1:p.Thr416=
ENST00000704372.1:n.1608A>T
ENST00000704444.1:c.1038A>T	ENSP00000515896.1:p.Thr346=
ENST00000704445.1:c.906A>T	ENSP00000515897.1:p.Thr302=
ENST00000704446.1:c.1048+664A>T	ENSP00000515898.1:n.1048+664A>T
ENST00000341893.8:c.1254A>T MANE Select	ENSP00000342510.3:p.Thr418=
ENST00000341893.7:c.1254A>T	ENSP00000342510.3:p.Thr418=
ENST00000467655.1:c.869A>T	ENSP00000418547.1:n.869A>T
ENST00000489172.5:n.1236A>T
ENST00000494050.5:c.1077A>T	ENSP00000418185.1:p.Thr359=
NM_001303401.1:c.1077A>T	NP_001290330.1:p.Thr359=
NM_024548.3:c.1254A>T	NP_078824.2:p.Thr418=
XM_006713743.2:c.1152A>T	XP_006713806.1:p.Thr384=
XM_011513125.1:c.1038A>T	XP_011511427.1:p.Thr346=
XM_011513126.1:c.1038A>T	XP_011511428.1:p.Thr346=
XM_011513127.1:c.906A>T	XP_011511429.1:p.Thr302=
XM_006713743.4:c.1152A>T	XP_006713806.1:p.Thr384=
XM_017007178.2:c.975A>T	XP_016862667.1:p.Thr325=
NM_024548.4:c.1254A>T MANE Select	NP_078824.2:p.Thr418=
NM_001303401.2:c.1077A>T	NP_001290330.1:p.Thr359=