Canonical Allele Identifier: CA4087772
Gene: PLG HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160731208G>A
GRCh37 chr6:g.161152240G>A
Revel Score:
ENST00000308192 (MANE Select) 0.063
gnomAD v2:
6:161152240 G / A
gnomAD v3:
6:160731208 G / A
gnomAD v4:
chr6-160731208-G-A
Joint Max Group AF 0.29072338 (NFE)
Genomes Max Group AF 0.28709608 (NFE)
Exomes Max Group AF 0.29076254 (NFE)
ClinVar RCV:
RCV000999696
RCV001619842
ClinVar Variation:
692202
dbSNP:
4252125
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160731208G>A , CM000668.2:g.160731208G>A GRCh38
NC_000006.11:g.161152240G>A , CM000668.1:g.161152240G>A GRCh37
NC_000006.10:g.161072230G>A NCBI36
NG_016200.1:g.34016G>A , LRG_571:g.34016G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000297289.9:c.367G>A ENSP00000516619.1:p.Asp123Asn
ENST00000418964.2:c.1465G>A ENSP00000389424.2:p.Asp489Asn
ENST00000706906.1:c.1414G>A ENSP00000516618.1:p.Asp472Asn
ENST00000308192.14:c.1414G>A MANE Select ENSP00000308938.9:p.Asp472Asn
ENST00000297289.8:n.412G>A
ENST00000308192.13:c.1414G>A ENSP00000308938.9:p.Asp472Asn
ENST00000493435.1:n.469G>A
NM_000301.3:c.1414G>A , LRG_571t1:c.1414G>A NP_000292.1:p.Asp472Asn
NM_000301.4:c.1414G>A NP_000292.1:p.Asp472Asn
NM_000301.5:c.1414G>A MANE Select NP_000292.1:p.Asp472Asn
Search 100 bp 5'
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