Canonical Allele Identifier: CA353877383

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476799A>C (hg19) ; chr3:g.101757955A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757955A>C , CM000665.2:g.101757955A>C	GRCh38
NC_000003.11:g.101476799A>C , CM000665.1:g.101476799A>C	GRCh37
NC_000003.10:g.102959489A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*984A>C	ENSP00000419009.1:n.*984A>C
ENST00000467655.2:c.*436A>C	ENSP00000418547.2:n.*436A>C
ENST00000704365.1:c.1349A>C	ENSP00000515873.1:p.Lys450Thr
ENST00000704366.1:c.1247A>C	ENSP00000515874.1:p.Lys416Thr
ENST00000704367.1:c.1070A>C	ENSP00000515875.1:p.Lys357Thr
ENST00000704368.1:n.1842A>C
ENST00000704369.1:c.863A>C	ENSP00000515876.1:p.Lys288Thr
ENST00000704370.1:c.1343A>C	ENSP00000515877.1:p.Lys448Thr
ENST00000704372.1:n.1703A>C
ENST00000704444.1:c.1133A>C	ENSP00000515896.1:p.Lys378Thr
ENST00000704445.1:c.1001A>C	ENSP00000515897.1:p.Lys334Thr
ENST00000704446.1:c.1048+759A>C	ENSP00000515898.1:n.1048+759A>C
ENST00000341893.8:c.1349A>C MANE Select	ENSP00000342510.3:p.Lys450Thr
ENST00000341893.7:c.1349A>C	ENSP00000342510.3:p.Lys450Thr
ENST00000467655.1:c.964A>C	ENSP00000418547.1:n.964A>C
ENST00000489172.5:n.1331A>C
ENST00000494050.5:c.1172A>C	ENSP00000418185.1:p.Lys391Thr
NM_001303401.1:c.1172A>C	NP_001290330.1:p.Lys391Thr
NM_024548.3:c.1349A>C	NP_078824.2:p.Lys450Thr
XM_006713743.2:c.1247A>C	XP_006713806.1:p.Lys416Thr
XM_011513125.1:c.1133A>C	XP_011511427.1:p.Lys378Thr
XM_011513126.1:c.1133A>C	XP_011511428.1:p.Lys378Thr
XM_011513127.1:c.1001A>C	XP_011511429.1:p.Lys334Thr
XM_006713743.4:c.1247A>C	XP_006713806.1:p.Lys416Thr
XM_017007178.2:c.1070A>C	XP_016862667.1:p.Lys357Thr
NM_024548.4:c.1349A>C MANE Select	NP_078824.2:p.Lys450Thr
NM_001303401.2:c.1172A>C	NP_001290330.1:p.Lys391Thr