Canonical Allele Identifier: CA453029002

Gene: PLG

Linked Data

• ClinVar Variation Id: 1710299
• ClinVar RCV Id: RCV002291249
• MyVariant Identifiers: chr6:g.161158038A>C (hg19)
• MutSpliceDB: CA453029002

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160737006A>C , CM000668.2:g.160737006A>C	GRCh38
NC_000006.11:g.161158038A>C , CM000668.1:g.161158038A>C	GRCh37
NC_000006.10:g.161078028A>C	NCBI36
NG_016200.1:g.39814A>C , LRG_571:g.39814A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297289.9:c.754A>C	ENSP00000516619.1:p.Arg252=
ENST00000418964.2:c.1852A>C	ENSP00000389424.2:p.Arg618=
ENST00000706906.1:c.*1821A>C	ENSP00000516618.1:n.*1821A>C
ENST00000308192.14:c.1801A>C MANE Select	ENSP00000308938.9:p.Arg601=
ENST00000308192.13:c.1801A>C	ENSP00000308938.9:p.Arg601=
NM_000301.3:c.1801A>C , LRG_571t1:c.1801A>C	NP_000292.1:p.Arg601=
NM_000301.4:c.1801A>C	NP_000292.1:p.Arg601=
NM_000301.5:c.1801A>C MANE Select	NP_000292.1:p.Arg601=