Canonical Allele Identifier: CA4087975
Community Standard Title: NM_000301.5(PLG):c.2045T>A (p.Ile682Asn)
Gene: PLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160741337T>A , CM000668.2:g.160741337T>A GRCh38
NC_000006.11:g.161162369T>A , CM000668.1:g.161162369T>A GRCh37
NC_000006.10:g.161082359T>A NCBI36
NG_016200.1:g.44145T>A , LRG_571:g.44145T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000301.5:c.2045T>A MANE Select NP_000292.1:p.Ile682Asn
ENST00000308192.14:c.2045T>A MANE Select ENSP00000308938.9:p.Ile682Asn
NM_000301.3:c.2045T>A , LRG_571t1:c.2045T>A NP_000292.1:p.Ile682Asn
NM_000301.4:c.2045T>A NP_000292.1:p.Ile682Asn
ENST00000297289.9:c.998T>A ENSP00000516619.1:p.Ile333Asn
ENST00000308192.13:c.2045T>A ENSP00000308938.9:p.Ile682Asn
ENST00000418964.2:c.2096T>A ENSP00000389424.2:p.Ile699Asn
ENST00000461414.2:n.68T>A
ENST00000467466.1:n.346T>A
ENST00000706906.1:c.*2065T>A ENSP00000516618.1:n.*2065T>A