Canonical Allele Identifier: CA366366411
Community Standard Title: NM_000301.5(PLG):c.2085C>A (p.Asp695Glu)
Gene: PLG HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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