Canonical Allele Identifier: CA353877681

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476932G>C (hg19) ; chr3:g.101758088G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758088G>C , CM000665.2:g.101758088G>C	GRCh38
NC_000003.11:g.101476932G>C , CM000665.1:g.101476932G>C	GRCh37
NC_000003.10:g.102959622G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1117G>C	ENSP00000419009.1:n.*1117G>C
ENST00000467655.2:c.*569G>C	ENSP00000418547.2:n.*569G>C
ENST00000704365.1:c.1482G>C	ENSP00000515873.1:p.Leu494Phe
ENST00000704366.1:c.1380G>C	ENSP00000515874.1:p.Leu460Phe
ENST00000704367.1:c.1203G>C	ENSP00000515875.1:p.Leu401Phe
ENST00000704368.1:n.1975G>C
ENST00000704369.1:c.996G>C	ENSP00000515876.1:p.Leu332Phe
ENST00000704370.1:c.1476G>C	ENSP00000515877.1:p.Leu492Phe
ENST00000704372.1:n.1836G>C
ENST00000704444.1:c.1266G>C	ENSP00000515896.1:p.Leu422Phe
ENST00000704445.1:c.1134G>C	ENSP00000515897.1:p.Leu378Phe
ENST00000704446.1:c.1048+892G>C	ENSP00000515898.1:n.1048+892G>C
ENST00000341893.8:c.1482G>C MANE Select	ENSP00000342510.3:p.Leu494Phe
ENST00000341893.7:c.1482G>C	ENSP00000342510.3:p.Leu494Phe
ENST00000467655.1:c.1097G>C	ENSP00000418547.1:n.1097G>C
ENST00000489172.5:n.1464G>C
ENST00000494050.5:c.1305G>C	ENSP00000418185.1:p.Leu435Phe
NM_001303401.1:c.1305G>C	NP_001290330.1:p.Leu435Phe
NM_024548.3:c.1482G>C	NP_078824.2:p.Leu494Phe
XM_006713743.2:c.1380G>C	XP_006713806.1:p.Leu460Phe
XM_011513125.1:c.1266G>C	XP_011511427.1:p.Leu422Phe
XM_011513126.1:c.1266G>C	XP_011511428.1:p.Leu422Phe
XM_011513127.1:c.1134G>C	XP_011511429.1:p.Leu378Phe
XM_006713743.4:c.1380G>C	XP_006713806.1:p.Leu460Phe
XM_017007178.2:c.1203G>C	XP_016862667.1:p.Leu401Phe
NM_024548.4:c.1482G>C MANE Select	NP_078824.2:p.Leu494Phe
NM_001303401.2:c.1305G>C	NP_001290330.1:p.Leu435Phe