Canonical Allele Identifier: CA335494

Linked Data

ClinVar Variation Id: 202036
dbSNP Id: rs749962743
COSMIC: COSM322721

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.118559066G>A , CM000668.2:g.118559066G>A GRCh38
NC_000006.11:g.118880229G>A , CM000668.1:g.118880229G>A GRCh37
NC_000006.10:g.118986922G>A NCBI36
NG_009082.1:g.15788G>A , LRG_390:g.15788G>A
NG_021248.1:g.156010C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357525.6:c.145G>A (PLN) MANE Select ENSP00000350132.5:p.Val49Met
ENST00000368491.8:c.1020+6463C>T (CEP85L) MANE Select ENSP00000357477.3:n.1020+6463C>T
ENST00000357525.5:c.145G>A (PLN) ENSP00000350132.5:p.Val49Met
ENST00000360290.7:c.714+6463C>T (CEP85L) ENSP00000353434.3:n.714+6463C>T
ENST00000368488.9:c.1029+6463C>T (CEP85L) ENSP00000357474.5:n.1029+6463C>T
ENST00000368491.7:c.1020+6463C>T (CEP85L) ENSP00000357477.3:n.1020+6463C>T
ENST00000392500.7:c.1029+6463C>T (CEP85L) ENSP00000376288.3:n.1029+6463C>T
ENST00000419517.2:c.1020+6463C>T (CEP85L) ENSP00000393317.2:n.1020+6463C>T
ENST00000434604.5:c.1029+6463C>T (CEP85L) ENSP00000392131.1:n.1029+6463C>T
NM_001042475.2:c.1020+6463C>T (CEP85L) NP_001035940.1:n.1020+6463C>T
NM_001178035.1:c.1029+6463C>T (CEP85L) NP_001171506.1:n.1029+6463C>T
NM_002667.3:c.145G>A , LRG_390t1:c.145G>A (PLN) NP_002658.1:p.Val49Met
NM_206921.2:c.1020+6463C>T (CEP85L) NP_996804.2:n.1020+6463C>T
XM_005266970.1:c.714+6463C>T (CEP85L) XP_005267027.1:n.714+6463C>T
XM_005266971.1:c.714+6463C>T (CEP85L) XP_005267028.1:n.714+6463C>T
XM_006715475.2:c.714+6463C>T (CEP85L) XP_006715538.1:n.714+6463C>T
XM_011535808.1:c.1029+6463C>T (CEP85L) XP_011534110.1:n.1029+6463C>T
XM_011535809.1:c.1020+6463C>T (CEP85L) XP_011534111.1:n.1020+6463C>T
XM_011535810.1:c.1029+6463C>T (CEP85L) XP_011534112.1:n.1029+6463C>T
XM_011535811.1:c.714+6463C>T (CEP85L) XP_011534113.1:n.714+6463C>T
XM_011535812.1:c.-67+4870C>T (CEP85L) XP_011534114.1:n.-67+4870C>T
NM_002667.4:c.145G>A (PLN) NP_002658.1:p.Val49Met
XM_006715475.4:c.714+6463C>T (CEP85L) XP_006715538.1:n.714+6463C>T
XM_011535809.2:c.1020+6463C>T (CEP85L) XP_011534111.1:n.1020+6463C>T
XM_011535810.2:c.1029+6463C>T (CEP85L) XP_011534112.1:n.1029+6463C>T
XM_017010846.1:c.1029+6463C>T (CEP85L) XP_016866335.1:n.1029+6463C>T
XM_024446429.1:c.1020+6463C>T (CEP85L) XP_024302197.1:n.1020+6463C>T
XM_024446430.1:c.1020+6463C>T (CEP85L) XP_024302198.1:n.1020+6463C>T
NM_001042475.3:c.1020+6463C>T (CEP85L) MANE Select NP_001035940.1:n.1020+6463C>T
NM_002667.5:c.145G>A (PLN) MANE Select NP_002658.1:p.Val49Met
NM_206921.3:c.1020+6463C>T (CEP85L) NP_996804.2:n.1020+6463C>T
NM_001178035.2:c.1029+6463C>T (CEP85L) NP_001171506.1:n.1029+6463C>T