Canonical Allele Identifier: CA1658244443
Gene: CEP85L HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118672388T= , CM000668.2:g.118672388T= GRCh38
NC_000006.11:g.118993551T= , CM000668.1:g.118993551T= GRCh37
NC_000006.10:g.119100244T= NCBI36
NG_021248.1:g.42688A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368488.9:c.-27-19580A= ENSP00000357474.5:n.-27-19580A=
ENST00000392500.7:c.-138-7867A= ENSP00000376288.3:n.-138-7867A=
ENST00000434604.5:c.-27-19580A= ENSP00000392131.1:n.-27-19580A=
NM_001178035.1:c.-27-19580A= NP_001171506.1:n.-27-19580A=
XM_011535811.1:c.-234+37648A= XP_011534113.1:n.-234+37648A=
XR_942917.1:n.544+7238T=
XR_942918.1:n.545-6856T=
XM_011535810.2:c.-138-7867A= XP_011534112.1:n.-138-7867A=
XM_017010846.1:c.-138-7867A= XP_016866335.1:n.-138-7867A=
XM_024446429.1:c.-1650-7867A= XP_024302197.1:n.-1650-7867A=
XM_024446430.1:c.-1650-7867A= XP_024302198.1:n.-1650-7867A=
NM_001178035.2:c.-27-19580A= NP_001171506.1:n.-27-19580A=