Canonical Allele Identifier: CA353876244

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476552T>C (hg19) ; chr3:g.101757708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757708T>C , CM000665.2:g.101757708T>C	GRCh38
NC_000003.11:g.101476552T>C , CM000665.1:g.101476552T>C	GRCh37
NC_000003.10:g.102959242T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*737T>C	ENSP00000419009.1:n.*737T>C
ENST00000467655.2:c.*189T>C	ENSP00000418547.2:n.*189T>C
ENST00000704365.1:c.1102T>C	ENSP00000515873.1:p.Phe368Leu
ENST00000704366.1:c.1000T>C	ENSP00000515874.1:p.Phe334Leu
ENST00000704367.1:c.926-103T>C	ENSP00000515875.1:n.926-103T>C
ENST00000704368.1:n.1595T>C
ENST00000704369.1:c.616T>C	ENSP00000515876.1:p.Phe206Leu
ENST00000704370.1:c.1096T>C	ENSP00000515877.1:p.Phe366Leu
ENST00000704372.1:n.1456T>C
ENST00000704444.1:c.886T>C	ENSP00000515896.1:p.Phe296Leu
ENST00000704445.1:c.754T>C	ENSP00000515897.1:p.Phe252Leu
ENST00000704446.1:c.1048+512T>C	ENSP00000515898.1:n.1048+512T>C
ENST00000341893.8:c.1102T>C MANE Select	ENSP00000342510.3:p.Phe368Leu
ENST00000341893.7:c.1102T>C	ENSP00000342510.3:p.Phe368Leu
ENST00000467655.1:c.717T>C	ENSP00000418547.1:n.717T>C
ENST00000489172.5:n.1084T>C
ENST00000494050.5:c.1028-103T>C	ENSP00000418185.1:n.1028-103T>C
NM_001303401.1:c.1028-103T>C	NP_001290330.1:n.1028-103T>C
NM_024548.3:c.1102T>C	NP_078824.2:p.Phe368Leu
XM_006713743.2:c.1000T>C	XP_006713806.1:p.Phe334Leu
XM_011513125.1:c.886T>C	XP_011511427.1:p.Phe296Leu
XM_011513126.1:c.886T>C	XP_011511428.1:p.Phe296Leu
XM_011513127.1:c.754T>C	XP_011511429.1:p.Phe252Leu
XM_006713743.4:c.1000T>C	XP_006713806.1:p.Phe334Leu
XM_017007178.2:c.926-103T>C	XP_016862667.1:n.926-103T>C
NM_024548.4:c.1102T>C MANE Select	NP_078824.2:p.Phe368Leu
NM_001303401.2:c.1028-103T>C	NP_001290330.1:n.1028-103T>C