Canonical Allele Identifier: CA10621296

Linked Data

ClinVar Variation Id: 355133
dbSNP Id: rs9489434

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118548340G>A , CM000668.2:g.118548340G>A GRCh38
NC_000006.11:g.118869503G>A , CM000668.1:g.118869503G>A GRCh37
NC_000006.10:g.118976196G>A NCBI36
NG_009082.1:g.5062G>A , LRG_390:g.5062G>A
NG_021248.1:g.166736C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357525.6:c.-150G>A (PLN) MANE Select ENSP00000350132.5:n.-150G>A
ENST00000368491.8:c.1020+17189C>T (CEP85L) MANE Select ENSP00000357477.3:n.1020+17189C>T
ENST00000357525.5:c.-150G>A (PLN) ENSP00000350132.5:n.-150G>A
ENST00000360290.7:c.714+17189C>T (CEP85L) ENSP00000353434.3:n.714+17189C>T
ENST00000368488.9:c.1029+17189C>T (CEP85L) ENSP00000357474.5:n.1029+17189C>T
ENST00000368491.7:c.1020+17189C>T (CEP85L) ENSP00000357477.3:n.1020+17189C>T
ENST00000392500.7:c.1029+17189C>T (CEP85L) ENSP00000376288.3:n.1029+17189C>T
ENST00000419517.2:c.1020+17189C>T (CEP85L) ENSP00000393317.2:n.1020+17189C>T
ENST00000434604.5:c.1029+17189C>T (CEP85L) ENSP00000392131.1:n.1029+17189C>T
NM_001042475.2:c.1020+17189C>T (CEP85L) NP_001035940.1:n.1020+17189C>T
NM_001178035.1:c.1029+17189C>T (CEP85L) NP_001171506.1:n.1029+17189C>T
NM_002667.3:c.-150G>A , LRG_390t1:c.-150G>A (PLN) NP_002658.1:n.-150G>A
NM_206921.2:c.1020+17189C>T (CEP85L) NP_996804.2:n.1020+17189C>T
XM_005266970.1:c.714+17189C>T (CEP85L) XP_005267027.1:n.714+17189C>T
XM_005266971.1:c.714+17189C>T (CEP85L) XP_005267028.1:n.714+17189C>T
XM_006715475.2:c.714+17189C>T (CEP85L) XP_006715538.1:n.714+17189C>T
XM_011535808.1:c.1029+17189C>T (CEP85L) XP_011534110.1:n.1029+17189C>T
XM_011535809.1:c.1020+17189C>T (CEP85L) XP_011534111.1:n.1020+17189C>T
XM_011535810.1:c.1029+17189C>T (CEP85L) XP_011534112.1:n.1029+17189C>T
XM_011535811.1:c.714+17189C>T (CEP85L) XP_011534113.1:n.714+17189C>T
XM_011535812.1:c.-67+15596C>T (CEP85L) XP_011534114.1:n.-67+15596C>T
NM_002667.4:c.-150G>A (PLN) NP_002658.1:n.-150G>A
XM_006715475.4:c.714+17189C>T (CEP85L) XP_006715538.1:n.714+17189C>T
XM_011535809.2:c.1020+17189C>T (CEP85L) XP_011534111.1:n.1020+17189C>T
XM_011535810.2:c.1029+17189C>T (CEP85L) XP_011534112.1:n.1029+17189C>T
XM_017010846.1:c.1029+17189C>T (CEP85L) XP_016866335.1:n.1029+17189C>T
XM_024446429.1:c.1020+17189C>T (CEP85L) XP_024302197.1:n.1020+17189C>T
XM_024446430.1:c.1020+17189C>T (CEP85L) XP_024302198.1:n.1020+17189C>T
NM_001042475.3:c.1020+17189C>T (CEP85L) MANE Select NP_001035940.1:n.1020+17189C>T
NM_002667.5:c.-150G>A (PLN) MANE Select NP_002658.1:n.-150G>A
NM_206921.3:c.1020+17189C>T (CEP85L) NP_996804.2:n.1020+17189C>T
NM_001178035.2:c.1029+17189C>T (CEP85L) NP_001171506.1:n.1029+17189C>T