Canonical Allele Identifier: CA123263

Gene: PLG

Linked Data

• ClinVar Variation Id: 13574
• ClinVar RCV Id: RCV000014542 ; RCV000490289 ; RCV002513047 ; RCV003317035
• dbSNP Id: rs121918027
• ExAC: 6:161159625 G / A
• gnomAD v2: 6-161159625-G-A
• gnomAD v3: 6-160738593-G-A
• gnomAD v4: 6-160738593-G-A
• MyVariant Identifiers: chr6:g.161159625G>A (hg19) ; chr6:g.160738593G>A (hg38)
• PubMed: PMID:659588 ; PMID:1427790 ; PMID:1986355 ; PMID:6216475 ; PMID:6238949 ; PMID:9375744 ; PMID:15269832

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160738593G>A , CM000668.2:g.160738593G>A	GRCh38
NC_000006.11:g.161159625G>A , CM000668.1:g.161159625G>A	GRCh37
NC_000006.10:g.161079615G>A	NCBI36
NG_016200.1:g.41401G>A , LRG_571:g.41401G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297289.9:c.811G>A	ENSP00000516619.1:p.Ala271Thr
ENST00000418964.2:c.1909G>A	ENSP00000389424.2:p.Ala637Thr
ENST00000706906.1:c.*1878G>A	ENSP00000516618.1:n.*1878G>A
ENST00000308192.14:c.1858G>A MANE Select	ENSP00000308938.9:p.Ala620Thr
ENST00000308192.13:c.1858G>A	ENSP00000308938.9:p.Ala620Thr
ENST00000467466.1:n.159G>A
NM_000301.3:c.1858G>A , LRG_571t1:c.1858G>A	NP_000292.1:p.Ala620Thr
NM_000301.4:c.1858G>A	NP_000292.1:p.Ala620Thr
NM_000301.5:c.1858G>A MANE Select	NP_000292.1:p.Ala620Thr