Canonical Allele Identifier: CA2572600170

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672521C>T , CM000668.2:g.118672521C>T	GRCh38
NC_000006.11:g.118993684C>T , CM000668.1:g.118993684C>T	GRCh37
NC_000006.10:g.119100377C>T	NCBI36
NG_021248.1:g.42555G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368488.9:c.-27-19713G>A	ENSP00000357474.5:n.-27-19713G>A
ENST00000392500.7:c.-138-8000G>A	ENSP00000376288.3:n.-138-8000G>A
ENST00000434604.5:c.-27-19713G>A	ENSP00000392131.1:n.-27-19713G>A
NM_001178035.1:c.-27-19713G>A	NP_001171506.1:n.-27-19713G>A
XM_011535811.1:c.-234+37515G>A	XP_011534113.1:n.-234+37515G>A
XR_942917.1:n.544+7371C>T
XR_942918.1:n.545-6723C>T
XM_011535810.2:c.-138-8000G>A	XP_011534112.1:n.-138-8000G>A
XM_017010846.1:c.-138-8000G>A	XP_016866335.1:n.-138-8000G>A
XM_024446429.1:c.-1650-8000G>A	XP_024302197.1:n.-1650-8000G>A
XM_024446430.1:c.-1650-8000G>A	XP_024302198.1:n.-1650-8000G>A
NM_001178035.2:c.-27-19713G>A	NP_001171506.1:n.-27-19713G>A