Canonical Allele Identifier: CA12247589
Gene: CEP85L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118641577T>C , CM000668.2:g.118641577T>C GRCh38
NC_000006.11:g.118962740T>C , CM000668.1:g.118962740T>C GRCh37
NC_000006.10:g.119069433T>C NCBI36
NG_021248.1:g.73499A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368491.8:c.74-8966A>G MANE Select ENSP00000357477.3:n.74-8966A>G
ENST00000360290.7:c.-233-8966A>G ENSP00000353434.3:n.-233-8966A>G
ENST00000368488.9:c.83-8966A>G ENSP00000357474.5:n.83-8966A>G
ENST00000368491.7:c.74-8966A>G ENSP00000357477.3:n.74-8966A>G
ENST00000392500.7:c.83-8966A>G ENSP00000376288.3:n.83-8966A>G
ENST00000419517.2:c.74-8966A>G ENSP00000393317.2:n.74-8966A>G
ENST00000434604.5:c.83-8966A>G ENSP00000392131.1:n.83-8966A>G
ENST00000462101.1:n.99+5330A>G
ENST00000476150.5:n.199+5330A>G
ENST00000483035.5:n.145-8966A>G
NM_001042475.2:c.74-8966A>G NP_001035940.1:n.74-8966A>G
NM_001178035.1:c.83-8966A>G NP_001171506.1:n.83-8966A>G
NM_206921.2:c.74-8966A>G NP_996804.2:n.74-8966A>G
XM_005266970.1:c.-234+5330A>G XP_005267027.1:n.-234+5330A>G
XM_005266971.1:c.-233-8966A>G XP_005267028.1:n.-233-8966A>G
XM_006715475.2:c.-234+5330A>G XP_006715538.1:n.-234+5330A>G
XM_011535808.1:c.83-8966A>G XP_011534110.1:n.83-8966A>G
XM_011535809.1:c.74-8966A>G XP_011534111.1:n.74-8966A>G
XM_011535810.1:c.83-8966A>G XP_011534112.1:n.83-8966A>G
XM_011535811.1:c.-233-8966A>G XP_011534113.1:n.-233-8966A>G
XM_006715475.4:c.-234+5330A>G XP_006715538.1:n.-234+5330A>G
XM_011535809.2:c.74-8966A>G XP_011534111.1:n.74-8966A>G
XM_011535810.2:c.83-8966A>G XP_011534112.1:n.83-8966A>G
XM_017010846.1:c.83-8966A>G XP_016866335.1:n.83-8966A>G
XM_024446429.1:c.74-8966A>G XP_024302197.1:n.74-8966A>G
XM_024446430.1:c.74-8966A>G XP_024302198.1:n.74-8966A>G
NM_001042475.3:c.74-8966A>G MANE Select NP_001035940.1:n.74-8966A>G
NM_206921.3:c.74-8966A>G NP_996804.2:n.74-8966A>G
NM_001178035.2:c.83-8966A>G NP_001171506.1:n.83-8966A>G