Canonical Allele Identifier: CA366366408
Community Standard Title: NM_000301.5(PLG):c.2085C>G (p.Asp695Glu)
Gene: PLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160741377C>G , CM000668.2:g.160741377C>G GRCh38
NC_000006.11:g.161162409C>G , CM000668.1:g.161162409C>G GRCh37
NC_000006.10:g.161082399C>G NCBI36
NG_016200.1:g.44185C>G , LRG_571:g.44185C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000301.5:c.2085C>G MANE Select NP_000292.1:p.Asp695Glu
ENST00000308192.14:c.2085C>G MANE Select ENSP00000308938.9:p.Asp695Glu
NM_000301.3:c.2085C>G , LRG_571t1:c.2085C>G NP_000292.1:p.Asp695Glu
NM_000301.4:c.2085C>G NP_000292.1:p.Asp695Glu
ENST00000297289.9:c.1038C>G ENSP00000516619.1:p.Asp346Glu
ENST00000308192.13:c.2085C>G ENSP00000308938.9:p.Asp695Glu
ENST00000418964.2:c.2136C>G ENSP00000389424.2:p.Asp712Glu
ENST00000461414.2:n.99+9C>G
ENST00000467466.1:n.386C>G
ENST00000706906.1:c.*2105C>G ENSP00000516618.1:n.*2105C>G