Canonical Allele Identifier: CA353877750

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476960T>C (hg19) ; chr3:g.101758116T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758116T>C , CM000665.2:g.101758116T>C	GRCh38
NC_000003.11:g.101476960T>C , CM000665.1:g.101476960T>C	GRCh37
NC_000003.10:g.102959650T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1145T>C	ENSP00000419009.1:n.*1145T>C
ENST00000467655.2:c.*597T>C	ENSP00000418547.2:n.*597T>C
ENST00000704365.1:c.1510T>C	ENSP00000515873.1:p.Phe504Leu
ENST00000704366.1:c.1408T>C	ENSP00000515874.1:p.Phe470Leu
ENST00000704367.1:c.1231T>C	ENSP00000515875.1:p.Phe411Leu
ENST00000704368.1:n.2003T>C
ENST00000704369.1:c.1024T>C	ENSP00000515876.1:p.Phe342Leu
ENST00000704370.1:c.1504T>C	ENSP00000515877.1:p.Phe502Leu
ENST00000704372.1:n.1864T>C
ENST00000704444.1:c.1294T>C	ENSP00000515896.1:p.Phe432Leu
ENST00000704445.1:c.1162T>C	ENSP00000515897.1:p.Phe388Leu
ENST00000704446.1:c.1048+920T>C	ENSP00000515898.1:n.1048+920T>C
ENST00000341893.8:c.1510T>C MANE Select	ENSP00000342510.3:p.Phe504Leu
ENST00000341893.7:c.1510T>C	ENSP00000342510.3:p.Phe504Leu
ENST00000467655.1:c.1125T>C	ENSP00000418547.1:n.1125T>C
ENST00000489172.5:n.1492T>C
ENST00000494050.5:c.1333T>C	ENSP00000418185.1:p.Phe445Leu
NM_001303401.1:c.1333T>C	NP_001290330.1:p.Phe445Leu
NM_024548.3:c.1510T>C	NP_078824.2:p.Phe504Leu
XM_006713743.2:c.1408T>C	XP_006713806.1:p.Phe470Leu
XM_011513125.1:c.1294T>C	XP_011511427.1:p.Phe432Leu
XM_011513126.1:c.1294T>C	XP_011511428.1:p.Phe432Leu
XM_011513127.1:c.1162T>C	XP_011511429.1:p.Phe388Leu
XM_006713743.4:c.1408T>C	XP_006713806.1:p.Phe470Leu
XM_017007178.2:c.1231T>C	XP_016862667.1:p.Phe411Leu
NM_024548.4:c.1510T>C MANE Select	NP_078824.2:p.Phe504Leu
NM_001303401.2:c.1333T>C	NP_001290330.1:p.Phe445Leu