Canonical Allele Identifier: CA146525410

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118523806C>T , CM000668.2:g.118523806C>T	GRCh38
NC_000006.11:g.118844969C>T , CM000668.1:g.118844969C>T	GRCh37
NC_000006.10:g.118951662C>T	NCBI36
NG_021248.1:g.191270G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368491.8:c.1135G>A MANE Select	ENSP00000357477.3:p.Asp379Asn
ENST00000360290.7:c.829G>A	ENSP00000353434.3:p.Asp277Asn
ENST00000368488.9:c.1144G>A	ENSP00000357474.5:p.Asp382Asn
ENST00000368491.7:c.1135G>A	ENSP00000357477.3:p.Asp379Asn
ENST00000392500.7:c.1144G>A	ENSP00000376288.3:p.Asp382Asn
ENST00000419517.2:c.1135G>A	ENSP00000393317.2:p.Asp379Asn
ENST00000434604.5:c.1144G>A	ENSP00000392131.1:p.Asp382Asn
NM_001042475.2:c.1135G>A	NP_001035940.1:p.Asp379Asn
NM_001178035.1:c.1144G>A	NP_001171506.1:p.Asp382Asn
NM_206921.2:c.1135G>A	NP_996804.2:p.Asp379Asn
XM_005266970.1:c.829G>A	XP_005267027.1:p.Asp277Asn
XM_005266971.1:c.829G>A	XP_005267028.1:p.Asp277Asn
XM_005266972.3:c.49G>A	XP_005267029.1:p.Asp17Asn
XM_006715475.2:c.829G>A	XP_006715538.1:p.Asp277Asn
XM_011535808.1:c.1144G>A	XP_011534110.1:p.Asp382Asn
XM_011535809.1:c.1135G>A	XP_011534111.1:p.Asp379Asn
XM_011535810.1:c.1144G>A	XP_011534112.1:p.Asp382Asn
XM_011535811.1:c.829G>A	XP_011534113.1:p.Asp277Asn
XM_011535812.1:c.49G>A	XP_011534114.1:p.Asp17Asn
XR_942920.1:n.1205-12718C>T
XR_942921.1:n.1117-12718C>T
XR_942922.1:n.1205-12718C>T
XR_942923.1:n.1117-1264C>T
XM_005266972.4:c.49G>A	XP_005267029.1:p.Asp17Asn
XM_006715475.4:c.829G>A	XP_006715538.1:p.Asp277Asn
XM_011535809.2:c.1135G>A	XP_011534111.1:p.Asp379Asn
XM_011535810.2:c.1144G>A	XP_011534112.1:p.Asp382Asn
XM_017010846.1:c.1144G>A	XP_016866335.1:p.Asp382Asn
XM_024446429.1:c.1135G>A	XP_024302197.1:p.Asp379Asn
XM_024446430.1:c.1135G>A	XP_024302198.1:p.Asp379Asn
NM_001042475.3:c.1135G>A MANE Select	NP_001035940.1:p.Asp379Asn
NM_206921.3:c.1135G>A	NP_996804.2:p.Asp379Asn
NM_001178035.2:c.1144G>A	NP_001171506.1:p.Asp382Asn