Canonical Allele Identifier: CA365547243

Gene: CEP85L

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118632512C>T , CM000668.2:g.118632512C>T	GRCh38
NC_000006.11:g.118953675C>T , CM000668.1:g.118953675C>T	GRCh37
NC_000006.10:g.119060368C>T	NCBI36
NG_021248.1:g.82564G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042475.3:c.173G>A MANE Select	NP_001035940.1:p.Ser58Asn
ENST00000368491.8:c.173G>A MANE Select	ENSP00000357477.3:p.Ser58Asn
NM_001042475.2:c.173G>A	NP_001035940.1:p.Ser58Asn
NM_001178035.1:c.182G>A	NP_001171506.1:p.Ser61Asn
NM_001178035.2:c.182G>A	NP_001171506.1:p.Ser61Asn
NM_206921.2:c.173G>A	NP_996804.2:p.Ser58Asn
NM_206921.3:c.173G>A	NP_996804.2:p.Ser58Asn
ENST00000360290.7:c.-134G>A	ENSP00000353434.3:n.-134G>A
ENST00000368488.9:c.182G>A	ENSP00000357474.5:p.Ser61Asn
ENST00000368491.7:c.173G>A	ENSP00000357477.3:p.Ser58Asn
ENST00000392500.7:c.182G>A	ENSP00000376288.3:p.Ser61Asn
ENST00000419517.2:c.173G>A	ENSP00000393317.2:p.Ser58Asn
ENST00000434604.5:c.182G>A	ENSP00000392131.1:p.Ser61Asn
ENST00000462101.1:n.199G>A
ENST00000476150.5:n.299G>A
ENST00000483035.5:n.244G>A
XM_005266970.1:c.-134G>A	XP_005267027.1:n.-134G>A
XM_005266971.1:c.-134G>A	XP_005267028.1:n.-134G>A
XM_006715475.2:c.-134G>A	XP_006715538.1:n.-134G>A
XM_006715475.4:c.-134G>A	XP_006715538.1:n.-134G>A
XM_011535808.1:c.182G>A	XP_011534110.1:p.Ser61Asn
XM_011535809.1:c.173G>A	XP_011534111.1:p.Ser58Asn
XM_011535809.2:c.173G>A	XP_011534111.1:p.Ser58Asn
XM_011535810.1:c.182G>A	XP_011534112.1:p.Ser61Asn
XM_011535810.2:c.182G>A	XP_011534112.1:p.Ser61Asn
XM_011535811.1:c.-134G>A	XP_011534113.1:n.-134G>A
XM_017010846.1:c.182G>A	XP_016866335.1:p.Ser61Asn
XM_024446429.1:c.173G>A	XP_024302197.1:p.Ser58Asn
XM_024446430.1:c.173G>A	XP_024302198.1:p.Ser58Asn