Canonical Allele Identifier: CA4087798

Gene: PLG

Linked Data

• ClinVar Variation Id: 76224
• ClinVar RCV Id: RCV000625418 ; RCV001270566 ; RCV001579765 ; RCV002222014 ; RCV002280865 ; RCV003935005
• dbSNP Id: rs140537724
• ExAC: 6:161152807 G / A
• gnomAD v2: 6-161152807-G-A
• gnomAD v3: 6-160731775-G-A
• gnomAD v4: 6-160731775-G-A
• MyVariant Identifiers: chr6:g.161152807G>A (hg19) ; chr6:g.160731775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160731775G>A , CM000668.2:g.160731775G>A	GRCh38
NC_000006.11:g.161152807G>A , CM000668.1:g.161152807G>A	GRCh37
NC_000006.10:g.161072797G>A	NCBI36
NG_016200.1:g.34583G>A , LRG_571:g.34583G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297289.9:c.422G>A	ENSP00000516619.1:p.Arg141Gln
ENST00000418964.2:c.1520G>A	ENSP00000389424.2:p.Arg507Gln
ENST00000706906.1:c.1469G>A	ENSP00000516618.1:p.Arg490Gln
ENST00000308192.14:c.1469G>A MANE Select	ENSP00000308938.9:p.Arg490Gln
ENST00000308192.13:c.1469G>A	ENSP00000308938.9:p.Arg490Gln
ENST00000493435.1:n.524G>A
NM_000301.3:c.1469G>A , LRG_571t1:c.1469G>A	NP_000292.1:p.Arg490Gln
NM_000301.4:c.1469G>A	NP_000292.1:p.Arg490Gln
NM_000301.5:c.1469G>A MANE Select	NP_000292.1:p.Arg490Gln