Canonical Allele Identifier: CA4087901
Gene: PLG HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.160738583G>C
GRCh37 chr6:g.161159615G>C
Revel Score:
ENST00000308192 (MANE Select) 0.920
ENST00000316325 0.920
gnomAD v2:
6:161159615 G / C
gnomAD v4:
chr6-160738583-G-C
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar RCV:
RCV003555315
ClinVar Variation:
2734967
dbSNP:
121918031
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160738583G>C , CM000668.2:g.160738583G>C GRCh38
NC_000006.11:g.161159615G>C , CM000668.1:g.161159615G>C GRCh37
NC_000006.10:g.161079605G>C NCBI36
NG_016200.1:g.41391G>C , LRG_571:g.41391G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000297289.9:c.801G>C ENSP00000516619.1:p.Trp267Cys
ENST00000418964.2:c.1899G>C ENSP00000389424.2:p.Trp633Cys
ENST00000706906.1:c.*1868G>C ENSP00000516618.1:n.*1868G>C
ENST00000308192.14:c.1848G>C MANE Select ENSP00000308938.9:p.Trp616Cys
ENST00000308192.13:c.1848G>C ENSP00000308938.9:p.Trp616Cys
ENST00000467466.1:n.149G>C
NM_000301.3:c.1848G>C , LRG_571t1:c.1848G>C NP_000292.1:p.Trp616Cys
NM_000301.4:c.1848G>C NP_000292.1:p.Trp616Cys
NM_000301.5:c.1848G>C MANE Select NP_000292.1:p.Trp616Cys
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