Canonical Allele Identifier: CA343951742

Gene: PLA2G4A

Linked Data

• gnomAD v4: 1-186956182-G-T
• COSMIC: COSM677486
• MyVariant Identifiers: chr1:g.186925314G>T (hg19) ; chr1:g.186956182G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.186956182G>T , CM000663.2:g.186956182G>T	GRCh38
NC_000001.10:g.186925314G>T , CM000663.1:g.186925314G>T	GRCh37
NC_000001.9:g.185191937G>T	NCBI36
NG_012203.1:g.132283G>T
NG_012203.2:g.132283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367466.4:c.1417G>T MANE Select	ENSP00000356436.3:p.Val473Leu
ENST00000367466.3:c.1417G>T	ENSP00000356436.3:p.Val473Leu
NM_001311193.1:c.1237G>T	NP_001298122.1:p.Val413Leu
NM_024420.2:c.1417G>T	NP_077734.1:p.Val473Leu
XM_005245267.2:c.1306G>T	XP_005245324.1:p.Val436Leu
XM_011509641.1:c.1438G>T	XP_011507943.1:p.Val480Leu
XM_011509642.1:c.1417G>T	XP_011507944.1:p.Val473Leu
XM_011509643.1:c.1417G>T	XP_011507945.1:p.Val473Leu
XR_921838.1:n.1477+1G>T
XM_005245267.4:c.1432G>T	XP_005245324.2:p.Val478Leu
XM_011509642.2:c.1417G>T	XP_011507944.1:p.Val473Leu
NM_001311193.2:c.1237G>T	NP_001298122.2:p.Val413Leu
NM_024420.3:c.1417G>T MANE Select	NP_077734.2:p.Val473Leu