Canonical Allele Identifier: CA123269
Gene: PLG HGNC NCBI
COSMIC:
COSM246667
MyVariant.info:
GRCh38 chr6:g.160716680G>A
GRCh37 chr6:g.161137712G>A
Revel Score:
ENST00000308192 (MANE Select) 0.850
gnomAD v4:
chr6-160716680-G-A
Joint Max Group AF 0.00000429 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar RCV:
RCV000014545
ClinVar Variation:
13577
dbSNP:
121918030
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160716680G>A , CM000668.2:g.160716680G>A GRCh38
NC_000006.11:g.161137712G>A , CM000668.1:g.161137712G>A GRCh37
NC_000006.10:g.161057702G>A NCBI36
NG_016200.1:g.19488G>A , LRG_571:g.19488G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297289.9:c.50-5728G>A ENSP00000516619.1:n.50-5728G>A
ENST00000418964.2:c.755G>A ENSP00000389424.2:p.Arg252His
ENST00000706906.1:c.704G>A ENSP00000516618.1:p.Arg235His
ENST00000308192.14:c.704G>A MANE Select ENSP00000308938.9:p.Arg235His
ENST00000297289.8:n.95-5728G>A
ENST00000308192.13:c.704G>A ENSP00000308938.9:p.Arg235His
NM_000301.3:c.704G>A , LRG_571t1:c.704G>A NP_000292.1:p.Arg235His
NM_000301.4:c.704G>A NP_000292.1:p.Arg235His
NM_000301.5:c.704G>A MANE Select NP_000292.1:p.Arg235His
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