Canonical Allele Identifier: CA4087714
Gene: PLG HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160722576T>C
GRCh37 chr6:g.161143608T>C
gnomAD v2:
6:161143608 T / C
gnomAD v3:
6:160722576 T / C
gnomAD v4:
chr6-160722576-T-C
Joint Max Group AF 0.2903353 (NFE)
Genomes Max Group AF 0.28721703 (NFE)
Exomes Max Group AF 0.29034344 (NFE)
ClinVar RCV:
RCV001529726
RCV001685432
ClinVar Variation:
1175041
dbSNP:
4252120
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160722576T>C , CM000668.2:g.160722576T>C GRCh38
NC_000006.11:g.161143608T>C , CM000668.1:g.161143608T>C GRCh37
NC_000006.10:g.161063598T>C NCBI36
NG_016200.1:g.25384T>C , LRG_571:g.25384T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297289.9:c.209+9T>C ENSP00000516619.1:n.209+9T>C
ENST00000418964.2:c.1307+9T>C ENSP00000389424.2:n.1307+9T>C
ENST00000706906.1:c.1256+9T>C ENSP00000516618.1:n.1256+9T>C
ENST00000308192.14:c.1256+9T>C MANE Select ENSP00000308938.9:n.1256+9T>C
ENST00000297289.8:n.254+9T>C
ENST00000308192.13:c.1256+9T>C ENSP00000308938.9:n.1256+9T>C
NM_000301.3:c.1256+9T>C , LRG_571t1:c.1256+9T>C NP_000292.1:n.1256+9T>C
NM_000301.4:c.1256+9T>C NP_000292.1:n.1256+9T>C
NM_000301.5:c.1256+9T>C MANE Select NP_000292.1:n.1256+9T>C
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