Canonical Allele Identifier: CA434873359

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476893A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758049A>T , CM000665.2:g.101758049A>T	GRCh38
NC_000003.11:g.101476893A>T , CM000665.1:g.101476893A>T	GRCh37
NC_000003.10:g.102959583A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1078A>T	ENSP00000419009.1:n.*1078A>T
ENST00000467655.2:c.*530A>T	ENSP00000418547.2:n.*530A>T
ENST00000704365.1:c.1443A>T	ENSP00000515873.1:p.Leu481=
ENST00000704366.1:c.1341A>T	ENSP00000515874.1:p.Leu447=
ENST00000704367.1:c.1164A>T	ENSP00000515875.1:p.Leu388=
ENST00000704368.1:n.1936A>T
ENST00000704369.1:c.957A>T	ENSP00000515876.1:p.Leu319=
ENST00000704370.1:c.1437A>T	ENSP00000515877.1:p.Leu479=
ENST00000704372.1:n.1797A>T
ENST00000704444.1:c.1227A>T	ENSP00000515896.1:p.Leu409=
ENST00000704445.1:c.1095A>T	ENSP00000515897.1:p.Leu365=
ENST00000704446.1:c.1048+853A>T	ENSP00000515898.1:n.1048+853A>T
ENST00000341893.8:c.1443A>T MANE Select	ENSP00000342510.3:p.Leu481=
ENST00000341893.7:c.1443A>T	ENSP00000342510.3:p.Leu481=
ENST00000467655.1:c.1058A>T	ENSP00000418547.1:n.1058A>T
ENST00000489172.5:n.1425A>T
ENST00000494050.5:c.1266A>T	ENSP00000418185.1:p.Leu422=
NM_001303401.1:c.1266A>T	NP_001290330.1:p.Leu422=
NM_024548.3:c.1443A>T	NP_078824.2:p.Leu481=
XM_006713743.2:c.1341A>T	XP_006713806.1:p.Leu447=
XM_011513125.1:c.1227A>T	XP_011511427.1:p.Leu409=
XM_011513126.1:c.1227A>T	XP_011511428.1:p.Leu409=
XM_011513127.1:c.1095A>T	XP_011511429.1:p.Leu365=
XM_006713743.4:c.1341A>T	XP_006713806.1:p.Leu447=
XM_017007178.2:c.1164A>T	XP_016862667.1:p.Leu388=
NM_024548.4:c.1443A>T MANE Select	NP_078824.2:p.Leu481=
NM_001303401.2:c.1266A>T	NP_001290330.1:p.Leu422=