Canonical Allele Identifier: CA1093658749

Gene: CEP85L

Linked Data

• dbSNP Id: rs1259069230
• gnomAD v3: 6-118672393-G-C
• gnomAD v4: 6-118672393-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672393G>C , CM000668.2:g.118672393G>C	GRCh38
NC_000006.11:g.118993556G>C , CM000668.1:g.118993556G>C	GRCh37
NC_000006.10:g.119100249G>C	NCBI36
NG_021248.1:g.42683C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19585C>G	ENSP00000357474.5:n.-27-19585C>G
ENST00000392500.7:c.-138-7872C>G	ENSP00000376288.3:n.-138-7872C>G
ENST00000434604.5:c.-27-19585C>G	ENSP00000392131.1:n.-27-19585C>G
NM_001178035.1:c.-27-19585C>G	NP_001171506.1:n.-27-19585C>G
XM_011535811.1:c.-234+37643C>G	XP_011534113.1:n.-234+37643C>G
XR_942917.1:n.544+7243G>C
XR_942918.1:n.545-6851G>C
XM_011535810.2:c.-138-7872C>G	XP_011534112.1:n.-138-7872C>G
XM_017010846.1:c.-138-7872C>G	XP_016866335.1:n.-138-7872C>G
XM_024446429.1:c.-1650-7872C>G	XP_024302197.1:n.-1650-7872C>G
XM_024446430.1:c.-1650-7872C>G	XP_024302198.1:n.-1650-7872C>G
NM_001178035.2:c.-27-19585C>G	NP_001171506.1:n.-27-19585C>G