Canonical Allele Identifier: CA1658244459

Gene: CEP85L

Linked Data

• dbSNP Id: rs1776336199
• gnomAD v3: 6-118672410-T-C
• gnomAD v4: 6-118672410-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672410T>C , CM000668.2:g.118672410T>C	GRCh38
NC_000006.11:g.118993573T>C , CM000668.1:g.118993573T>C	GRCh37
NC_000006.10:g.119100266T>C	NCBI36
NG_021248.1:g.42666A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19602A>G	ENSP00000357474.5:n.-27-19602A>G
ENST00000392500.7:c.-138-7889A>G	ENSP00000376288.3:n.-138-7889A>G
ENST00000434604.5:c.-27-19602A>G	ENSP00000392131.1:n.-27-19602A>G
NM_001178035.1:c.-27-19602A>G	NP_001171506.1:n.-27-19602A>G
XM_011535811.1:c.-234+37626A>G	XP_011534113.1:n.-234+37626A>G
XR_942917.1:n.544+7260T>C
XR_942918.1:n.545-6834T>C
XM_011535810.2:c.-138-7889A>G	XP_011534112.1:n.-138-7889A>G
XM_017010846.1:c.-138-7889A>G	XP_016866335.1:n.-138-7889A>G
XM_024446429.1:c.-1650-7889A>G	XP_024302197.1:n.-1650-7889A>G
XM_024446430.1:c.-1650-7889A>G	XP_024302198.1:n.-1650-7889A>G
NM_001178035.2:c.-27-19602A>G	NP_001171506.1:n.-27-19602A>G