Canonical Allele Identifier: CA452016404

Gene: PLN CEP85L

Linked Data

• ClinVar Variation Id: 2884459
• ClinVar RCV Id: RCV003626565
• dbSNP Id: rs1583047485
• gnomAD v4: 6-118558942-C-T
• MyVariant Identifiers: chr6:g.118880105C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.118558942C>T , CM000668.2:g.118558942C>T	GRCh38
NC_000006.11:g.118880105C>T , CM000668.1:g.118880105C>T	GRCh37
NC_000006.10:g.118986798C>T	NCBI36
NG_009082.1:g.15664C>T , LRG_390:g.15664C>T
NG_021248.1:g.156134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357525.6:c.21C>T (PLN) MANE Select	ENSP00000350132.5:p.Leu7=
ENST00000368491.8:c.1020+6587G>A (CEP85L) MANE Select	ENSP00000357477.3:n.1020+6587G>A
ENST00000357525.5:c.21C>T (PLN)	ENSP00000350132.5:p.Leu7=
ENST00000360290.7:c.714+6587G>A (CEP85L)	ENSP00000353434.3:n.714+6587G>A
ENST00000368488.9:c.1029+6587G>A (CEP85L)	ENSP00000357474.5:n.1029+6587G>A
ENST00000368491.7:c.1020+6587G>A (CEP85L)	ENSP00000357477.3:n.1020+6587G>A
ENST00000392500.7:c.1029+6587G>A (CEP85L)	ENSP00000376288.3:n.1029+6587G>A
ENST00000419517.2:c.1020+6587G>A (CEP85L)	ENSP00000393317.2:n.1020+6587G>A
ENST00000434604.5:c.1029+6587G>A (CEP85L)	ENSP00000392131.1:n.1029+6587G>A
NM_001042475.2:c.1020+6587G>A (CEP85L)	NP_001035940.1:n.1020+6587G>A
NM_001178035.1:c.1029+6587G>A (CEP85L)	NP_001171506.1:n.1029+6587G>A
NM_002667.3:c.21C>T , LRG_390t1:c.21C>T (PLN)	NP_002658.1:p.Leu7=
NM_206921.2:c.1020+6587G>A (CEP85L)	NP_996804.2:n.1020+6587G>A
XM_005266970.1:c.714+6587G>A (CEP85L)	XP_005267027.1:n.714+6587G>A
XM_005266971.1:c.714+6587G>A (CEP85L)	XP_005267028.1:n.714+6587G>A
XM_006715475.2:c.714+6587G>A (CEP85L)	XP_006715538.1:n.714+6587G>A
XM_011535808.1:c.1029+6587G>A (CEP85L)	XP_011534110.1:n.1029+6587G>A
XM_011535809.1:c.1020+6587G>A (CEP85L)	XP_011534111.1:n.1020+6587G>A
XM_011535810.1:c.1029+6587G>A (CEP85L)	XP_011534112.1:n.1029+6587G>A
XM_011535811.1:c.714+6587G>A (CEP85L)	XP_011534113.1:n.714+6587G>A
XM_011535812.1:c.-67+4994G>A (CEP85L)	XP_011534114.1:n.-67+4994G>A
NM_002667.4:c.21C>T (PLN)	NP_002658.1:p.Leu7=
XM_006715475.4:c.714+6587G>A (CEP85L)	XP_006715538.1:n.714+6587G>A
XM_011535809.2:c.1020+6587G>A (CEP85L)	XP_011534111.1:n.1020+6587G>A
XM_011535810.2:c.1029+6587G>A (CEP85L)	XP_011534112.1:n.1029+6587G>A
XM_017010846.1:c.1029+6587G>A (CEP85L)	XP_016866335.1:n.1029+6587G>A
XM_024446429.1:c.1020+6587G>A (CEP85L)	XP_024302197.1:n.1020+6587G>A
XM_024446430.1:c.1020+6587G>A (CEP85L)	XP_024302198.1:n.1020+6587G>A
NM_001042475.3:c.1020+6587G>A (CEP85L) MANE Select	NP_001035940.1:n.1020+6587G>A
NM_002667.5:c.21C>T (PLN) MANE Select	NP_002658.1:p.Leu7=
NM_206921.3:c.1020+6587G>A (CEP85L)	NP_996804.2:n.1020+6587G>A
NM_001178035.2:c.1029+6587G>A (CEP85L)	NP_001171506.1:n.1029+6587G>A