Canonical Allele Identifier: CA366366168

Gene: PLG

Linked Data

• dbSNP Id: rs2115181768
• gnomAD v4: 6-160741322-T-A
• MyVariant Identifiers: chr6:g.161162354T>A (hg19) ; chr6:g.160741322T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160741322T>A , CM000668.2:g.160741322T>A	GRCh38
NC_000006.11:g.161162354T>A , CM000668.1:g.161162354T>A	GRCh37
NC_000006.10:g.161082344T>A	NCBI36
NG_016200.1:g.44130T>A , LRG_571:g.44130T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000297289.9:c.983T>A	ENSP00000516619.1:p.Ile328Asn
ENST00000418964.2:c.2081T>A	ENSP00000389424.2:p.Ile694Asn
ENST00000706906.1:c.*2050T>A	ENSP00000516618.1:n.*2050T>A
ENST00000308192.14:c.2030T>A MANE Select	ENSP00000308938.9:p.Ile677Asn
ENST00000308192.13:c.2030T>A	ENSP00000308938.9:p.Ile677Asn
ENST00000461414.2:n.53T>A
ENST00000467466.1:n.331T>A
NM_000301.3:c.2030T>A , LRG_571t1:c.2030T>A	NP_000292.1:p.Ile677Asn
NM_000301.4:c.2030T>A	NP_000292.1:p.Ile677Asn
NM_000301.5:c.2030T>A MANE Select	NP_000292.1:p.Ile677Asn