Canonical Allele Identifier: CA366363849

Gene: PLG

Linked Data

• gnomAD v4: 6-160731208-G-C
• MyVariant Identifiers: chr6:g.161152240G>C (hg19) ; chr6:g.160731208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160731208G>C , CM000668.2:g.160731208G>C	GRCh38
NC_000006.11:g.161152240G>C , CM000668.1:g.161152240G>C	GRCh37
NC_000006.10:g.161072230G>C	NCBI36
NG_016200.1:g.34016G>C , LRG_571:g.34016G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000297289.9:c.367G>C	ENSP00000516619.1:p.Asp123His
ENST00000418964.2:c.1465G>C	ENSP00000389424.2:p.Asp489His
ENST00000706906.1:c.1414G>C	ENSP00000516618.1:p.Asp472His
ENST00000308192.14:c.1414G>C MANE Select	ENSP00000308938.9:p.Asp472His
ENST00000297289.8:n.412G>C
ENST00000308192.13:c.1414G>C	ENSP00000308938.9:p.Asp472His
ENST00000493435.1:n.469G>C
NM_000301.3:c.1414G>C , LRG_571t1:c.1414G>C	NP_000292.1:p.Asp472His
NM_000301.4:c.1414G>C	NP_000292.1:p.Asp472His
NM_000301.5:c.1414G>C MANE Select	NP_000292.1:p.Asp472His