Canonical Allele Identifier: CA365549891

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118566094G>T , CM000668.2:g.118566094G>T	GRCh38
NC_000006.11:g.118887257G>T , CM000668.1:g.118887257G>T	GRCh37
NC_000006.10:g.118993950G>T	NCBI36
NG_021248.1:g.148982C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042475.3:c.455C>A MANE Select	NP_001035940.1:p.Pro152Gln
ENST00000368491.8:c.455C>A MANE Select	ENSP00000357477.3:p.Pro152Gln
NM_001042475.2:c.455C>A	NP_001035940.1:p.Pro152Gln
NM_001178035.1:c.464C>A	NP_001171506.1:p.Pro155Gln
NM_001178035.2:c.464C>A	NP_001171506.1:p.Pro155Gln
NM_206921.2:c.455C>A	NP_996804.2:p.Pro152Gln
NM_206921.3:c.455C>A	NP_996804.2:p.Pro152Gln
ENST00000360290.7:c.149C>A	ENSP00000353434.3:p.Pro50Gln
ENST00000368488.9:c.464C>A	ENSP00000357474.5:p.Pro155Gln
ENST00000368491.7:c.455C>A	ENSP00000357477.3:p.Pro152Gln
ENST00000392500.7:c.464C>A	ENSP00000376288.3:p.Pro155Gln
ENST00000419517.2:c.455C>A	ENSP00000393317.2:p.Pro152Gln
ENST00000434604.5:c.464C>A	ENSP00000392131.1:p.Pro155Gln
ENST00000462101.1:n.481C>A
ENST00000472713.1:n.301C>A
ENST00000476150.5:n.581C>A
ENST00000483035.5:n.526C>A
XM_005266970.1:c.149C>A	XP_005267027.1:p.Pro50Gln
XM_005266971.1:c.149C>A	XP_005267028.1:p.Pro50Gln
XM_006715475.2:c.149C>A	XP_006715538.1:p.Pro50Gln
XM_006715475.4:c.149C>A	XP_006715538.1:p.Pro50Gln
XM_011535808.1:c.464C>A	XP_011534110.1:p.Pro155Gln
XM_011535809.1:c.455C>A	XP_011534111.1:p.Pro152Gln
XM_011535809.2:c.455C>A	XP_011534111.1:p.Pro152Gln
XM_011535810.1:c.464C>A	XP_011534112.1:p.Pro155Gln
XM_011535810.2:c.464C>A	XP_011534112.1:p.Pro155Gln
XM_011535811.1:c.149C>A	XP_011534113.1:p.Pro50Gln
XM_017010846.1:c.464C>A	XP_016866335.1:p.Pro155Gln
XM_024446429.1:c.455C>A	XP_024302197.1:p.Pro152Gln
XM_024446430.1:c.455C>A	XP_024302198.1:p.Pro152Gln