Canonical Allele Identifier: CA4087973
Gene: PLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1693943
ClinVar RCV Id: RCV002261812
dbSNP Id: rs142551860
ExAC: 6:161162350 G / A
gnomAD v2: 6-161162350-G-A
gnomAD v3: 6-160741318-G-A
gnomAD v4: 6-160741318-G-A
COSMIC: COSM1442025
MyVariant Identifiers: chr6:g.161162350G>A (hg19) chr6:g.160741318G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160741318G>A , CM000668.2:g.160741318G>A GRCh38
NC_000006.11:g.161162350G>A , CM000668.1:g.161162350G>A GRCh37
NC_000006.10:g.161082340G>A NCBI36
NG_016200.1:g.44126G>A , LRG_571:g.44126G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000297289.9:c.979G>A ENSP00000516619.1:p.Val327Ile
ENST00000418964.2:c.2077G>A ENSP00000389424.2:p.Val693Ile
ENST00000706906.1:c.*2046G>A ENSP00000516618.1:n.*2046G>A
ENST00000308192.14:c.2026G>A MANE Select ENSP00000308938.9:p.Val676Ile
ENST00000308192.13:c.2026G>A ENSP00000308938.9:p.Val676Ile
ENST00000461414.2:n.49G>A
ENST00000467466.1:n.327G>A
NM_000301.3:c.2026G>A , LRG_571t1:c.2026G>A NP_000292.1:p.Val676Ile
NM_000301.4:c.2026G>A NP_000292.1:p.Val676Ile
NM_000301.5:c.2026G>A MANE Select NP_000292.1:p.Val676Ile
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