Canonical Allele Identifier: CA353877238

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476733T>C (hg19) ; chr3:g.101757889T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757889T>C , CM000665.2:g.101757889T>C	GRCh38
NC_000003.11:g.101476733T>C , CM000665.1:g.101476733T>C	GRCh37
NC_000003.10:g.102959423T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*918T>C	ENSP00000419009.1:n.*918T>C
ENST00000467655.2:c.*370T>C	ENSP00000418547.2:n.*370T>C
ENST00000704365.1:c.1283T>C	ENSP00000515873.1:p.Leu428Ser
ENST00000704366.1:c.1181T>C	ENSP00000515874.1:p.Leu394Ser
ENST00000704367.1:c.1004T>C	ENSP00000515875.1:p.Leu335Ser
ENST00000704368.1:n.1776T>C
ENST00000704369.1:c.797T>C	ENSP00000515876.1:p.Leu266Ser
ENST00000704370.1:c.1277T>C	ENSP00000515877.1:p.Leu426Ser
ENST00000704372.1:n.1637T>C
ENST00000704444.1:c.1067T>C	ENSP00000515896.1:p.Leu356Ser
ENST00000704445.1:c.935T>C	ENSP00000515897.1:p.Leu312Ser
ENST00000704446.1:c.1048+693T>C	ENSP00000515898.1:n.1048+693T>C
ENST00000341893.8:c.1283T>C MANE Select	ENSP00000342510.3:p.Leu428Ser
ENST00000341893.7:c.1283T>C	ENSP00000342510.3:p.Leu428Ser
ENST00000467655.1:c.898T>C	ENSP00000418547.1:n.898T>C
ENST00000489172.5:n.1265T>C
ENST00000494050.5:c.1106T>C	ENSP00000418185.1:p.Leu369Ser
NM_001303401.1:c.1106T>C	NP_001290330.1:p.Leu369Ser
NM_024548.3:c.1283T>C	NP_078824.2:p.Leu428Ser
XM_006713743.2:c.1181T>C	XP_006713806.1:p.Leu394Ser
XM_011513125.1:c.1067T>C	XP_011511427.1:p.Leu356Ser
XM_011513126.1:c.1067T>C	XP_011511428.1:p.Leu356Ser
XM_011513127.1:c.935T>C	XP_011511429.1:p.Leu312Ser
XM_006713743.4:c.1181T>C	XP_006713806.1:p.Leu394Ser
XM_017007178.2:c.1004T>C	XP_016862667.1:p.Leu335Ser
NM_024548.4:c.1283T>C MANE Select	NP_078824.2:p.Leu428Ser
NM_001303401.2:c.1106T>C	NP_001290330.1:p.Leu369Ser