Canonical Allele Identifier: CA1658244503

Gene: CEP85L

Linked Data

• dbSNP Id: rs1583246485

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672523C>G , CM000668.2:g.118672523C>G	GRCh38
NC_000006.11:g.118993686C>G , CM000668.1:g.118993686C>G	GRCh37
NC_000006.10:g.119100379C>G	NCBI36
NG_021248.1:g.42553G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000368488.9:c.-27-19715G>C	ENSP00000357474.5:n.-27-19715G>C
ENST00000392500.7:c.-138-8002G>C	ENSP00000376288.3:n.-138-8002G>C
ENST00000434604.5:c.-27-19715G>C	ENSP00000392131.1:n.-27-19715G>C
NM_001178035.1:c.-27-19715G>C	NP_001171506.1:n.-27-19715G>C
XM_011535811.1:c.-234+37513G>C	XP_011534113.1:n.-234+37513G>C
XR_942917.1:n.544+7373C>G
XR_942918.1:n.545-6721C>G
XM_011535810.2:c.-138-8002G>C	XP_011534112.1:n.-138-8002G>C
XM_017010846.1:c.-138-8002G>C	XP_016866335.1:n.-138-8002G>C
XM_024446429.1:c.-1650-8002G>C	XP_024302197.1:n.-1650-8002G>C
XM_024446430.1:c.-1650-8002G>C	XP_024302198.1:n.-1650-8002G>C
NM_001178035.2:c.-27-19715G>C	NP_001171506.1:n.-27-19715G>C