Canonical Allele Identifier: CA366358209
Community Standard Title: NM_000301.5(PLG):c.264G>T (p.Met88Ile)
Gene: PLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.160707778G>T , CM000668.2:g.160707778G>T GRCh38
NC_000006.11:g.161128810G>T , CM000668.1:g.161128810G>T GRCh37
NC_000006.10:g.161048800G>T NCBI36
NG_016200.1:g.10586G>T , LRG_571:g.10586G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000301.5:c.264G>T MANE Select NP_000292.1:p.Met88Ile
ENST00000308192.14:c.264G>T MANE Select ENSP00000308938.9:p.Met88Ile
NM_000301.3:c.264G>T , LRG_571t1:c.264G>T NP_000292.1:p.Met88Ile
NM_000301.4:c.264G>T NP_000292.1:p.Met88Ile
NM_001168338.1:c.264G>T , LRG_571t2:c.264G>T NP_001161810.1:p.Met88Ile
ENST00000297289.8:n.94+5425G>T
ENST00000297289.9:c.49+5425G>T ENSP00000516619.1:n.49+5425G>T
ENST00000308192.13:c.264G>T ENSP00000308938.9:p.Met88Ile
ENST00000366924.6:c.264G>T ENSP00000355891.2:p.Met88Ile
ENST00000418964.1:c.315G>T ENSP00000389424.1:p.Met105Ile
ENST00000418964.2:c.315G>T ENSP00000389424.2:p.Met105Ile
ENST00000462918.5:n.301G>T
ENST00000471691.1:n.247G>T
ENST00000483038.5:n.277G>T
ENST00000484367.5:n.1234G>T
ENST00000494325.1:n.248G>T
ENST00000494325.2:c.39G>T ENSP00000516620.1:p.Met13Ile
ENST00000706906.1:c.264G>T ENSP00000516618.1:p.Met88Ile