Canonical Allele Identifier: CA123263
Gene: PLG HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160738593G>A
GRCh37 chr6:g.161159625G>A
Revel Score:
ENST00000308192 (MANE Select) 0.797
ENST00000316325 0.797
gnomAD v2:
6:161159625 G / A
gnomAD v3:
6:160738593 G / A
gnomAD v4:
chr6-160738593-G-A
Joint Max Group AF 0.01575594 (EAS)
Genomes Max Group AF 0.01342992 (EAS)
Exomes Max Group AF 0.01575967 (EAS)
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'