Canonical Allele Identifier: CA365540549

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118465442T>C , CM000668.2:g.118465442T>C	GRCh38
NC_000006.11:g.118786605T>C , CM000668.1:g.118786605T>C	GRCh37
NC_000006.10:g.118893298T>C	NCBI36
NG_021248.1:g.249634A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001042475.3:c.2381A>G MANE Select	NP_001035940.1:p.Tyr794Cys
ENST00000368491.8:c.2381A>G MANE Select	ENSP00000357477.3:p.Tyr794Cys
NM_001042475.2:c.2381A>G	NP_001035940.1:p.Tyr794Cys
NM_001178035.1:c.2390A>G	NP_001171506.1:p.Tyr797Cys
NM_001178035.2:c.2390A>G	NP_001171506.1:p.Tyr797Cys
ENST00000368488.9:c.2390A>G	ENSP00000357474.5:p.Tyr797Cys
ENST00000368491.7:c.2381A>G	ENSP00000357477.3:p.Tyr794Cys
XM_005266970.1:c.2075A>G	XP_005267027.1:p.Tyr692Cys
XM_005266971.1:c.2075A>G	XP_005267028.1:p.Tyr692Cys
XM_005266972.3:c.1295A>G	XP_005267029.1:p.Tyr432Cys
XM_005266972.4:c.1295A>G	XP_005267029.1:p.Tyr432Cys
XM_006715475.2:c.2075A>G	XP_006715538.1:p.Tyr692Cys
XM_006715475.4:c.2075A>G	XP_006715538.1:p.Tyr692Cys
XM_011535808.1:c.2390A>G	XP_011534110.1:p.Tyr797Cys
XM_011535809.1:c.2381A>G	XP_011534111.1:p.Tyr794Cys
XM_011535809.2:c.2381A>G	XP_011534111.1:p.Tyr794Cys
XM_011535810.1:c.2210A>G	XP_011534112.1:p.Tyr737Cys
XM_011535810.2:c.2210A>G	XP_011534112.1:p.Tyr737Cys
XM_011535811.1:c.2075A>G	XP_011534113.1:p.Tyr692Cys
XM_011535812.1:c.1295A>G	XP_011534114.1:p.Tyr432Cys
XM_017010846.1:c.2390A>G	XP_016866335.1:p.Tyr797Cys
XM_024446429.1:c.2381A>G	XP_024302197.1:p.Tyr794Cys
XM_024446430.1:c.2201A>G	XP_024302198.1:p.Tyr734Cys