Canonical Allele Identifier: CA146542786

Gene: CEP85L

Linked Data

• dbSNP Id: rs910117582
• MyVariant Identifiers: chr6:g.118993666A>T (hg19) ; chr6:g.118672503A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118672503A>T , CM000668.2:g.118672503A>T	GRCh38
NC_000006.11:g.118993666A>T , CM000668.1:g.118993666A>T	GRCh37
NC_000006.10:g.119100359A>T	NCBI36
NG_021248.1:g.42573T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368488.9:c.-27-19695T>A	ENSP00000357474.5:n.-27-19695T>A
ENST00000392500.7:c.-138-7982T>A	ENSP00000376288.3:n.-138-7982T>A
ENST00000434604.5:c.-27-19695T>A	ENSP00000392131.1:n.-27-19695T>A
NM_001178035.1:c.-27-19695T>A	NP_001171506.1:n.-27-19695T>A
XM_011535811.1:c.-234+37533T>A	XP_011534113.1:n.-234+37533T>A
XR_942917.1:n.544+7353A>T
XR_942918.1:n.545-6741A>T
XM_011535810.2:c.-138-7982T>A	XP_011534112.1:n.-138-7982T>A
XM_017010846.1:c.-138-7982T>A	XP_016866335.1:n.-138-7982T>A
XM_024446429.1:c.-1650-7982T>A	XP_024302197.1:n.-1650-7982T>A
XM_024446430.1:c.-1650-7982T>A	XP_024302198.1:n.-1650-7982T>A
NM_001178035.2:c.-27-19695T>A	NP_001171506.1:n.-27-19695T>A