Canonical Allele Identifier: CA4087555
Community Standard Title: NM_000301.5(PLG):c.745G>A (p.Asp249Asn)
Gene: PLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160716721G>A , CM000668.2:g.160716721G>A GRCh38
NC_000006.11:g.161137753G>A , CM000668.1:g.161137753G>A GRCh37
NC_000006.10:g.161057743G>A NCBI36
NG_016200.1:g.19529G>A , LRG_571:g.19529G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000301.5:c.745G>A MANE Select NP_000292.1:p.Asp249Asn
ENST00000308192.14:c.745G>A MANE Select ENSP00000308938.9:p.Asp249Asn
NM_000301.3:c.745G>A , LRG_571t1:c.745G>A NP_000292.1:p.Asp249Asn
NM_000301.4:c.745G>A NP_000292.1:p.Asp249Asn
ENST00000297289.8:n.95-5687G>A
ENST00000297289.9:c.50-5687G>A ENSP00000516619.1:n.50-5687G>A
ENST00000308192.13:c.745G>A ENSP00000308938.9:p.Asp249Asn
ENST00000418964.2:c.796G>A ENSP00000389424.2:p.Asp266Asn
ENST00000706906.1:c.745G>A ENSP00000516618.1:p.Asp249Asn