Canonical Allele Identifier: CA146542783

Gene: CEP85L

Linked Data

• dbSNP Id: rs189944802
• gnomAD v3: 6-118672499-G-A
• gnomAD v4: 6-118672499-G-A
• MyVariant Identifiers: chr6:g.118993662G>A (hg19) ; chr6:g.118672499G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672499G>A , CM000668.2:g.118672499G>A	GRCh38
NC_000006.11:g.118993662G>A , CM000668.1:g.118993662G>A	GRCh37
NC_000006.10:g.119100355G>A	NCBI36
NG_021248.1:g.42577C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368488.9:c.-27-19691C>T	ENSP00000357474.5:n.-27-19691C>T
ENST00000392500.7:c.-138-7978C>T	ENSP00000376288.3:n.-138-7978C>T
ENST00000434604.5:c.-27-19691C>T	ENSP00000392131.1:n.-27-19691C>T
NM_001178035.1:c.-27-19691C>T	NP_001171506.1:n.-27-19691C>T
XM_011535811.1:c.-234+37537C>T	XP_011534113.1:n.-234+37537C>T
XR_942917.1:n.544+7349G>A
XR_942918.1:n.545-6745G>A
XM_011535810.2:c.-138-7978C>T	XP_011534112.1:n.-138-7978C>T
XM_017010846.1:c.-138-7978C>T	XP_016866335.1:n.-138-7978C>T
XM_024446429.1:c.-1650-7978C>T	XP_024302197.1:n.-1650-7978C>T
XM_024446430.1:c.-1650-7978C>T	XP_024302198.1:n.-1650-7978C>T
NM_001178035.2:c.-27-19691C>T	NP_001171506.1:n.-27-19691C>T