Canonical Allele Identifier: CA9155850
Community Standard Title: NM_139314.3(ANGPTL4):c.120G>A (p.Glu40=)
Gene: ANGPTL4 HGNC NCBI
ELAVL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.8364441G>A , CM000681.2:g.8364441G>A GRCh38
NC_000019.9:g.8429325G>A , CM000681.1:g.8429325G>A GRCh37
NC_000019.8:g.8335325G>A NCBI36
NG_012169.1:g.5315G>A

Transcript Alleles

HGVS Amino-acid Change
NM_139314.3:c.120G>A (ANGPTL4) MANE Select NP_647475.1:p.Glu40=
ENST00000301455.7:c.120G>A (ANGPTL4) MANE Select ENSP00000301455.1:p.Glu40=
NM_001039667.2:c.120G>A (ANGPTL4) NP_001034756.1:p.Glu40=
NM_001039667.3:c.120G>A (ANGPTL4) NP_001034756.1:p.Glu40=
NM_139314.2:c.120G>A (ANGPTL4) NP_647475.1:p.Glu40=
NR_104213.1:n.315G>A (ANGPTL4)
NR_104213.2:n.287G>A (ANGPTL4)
ENST00000301455.6:c.120G>A (ANGPTL4) ENSP00000301455.1:p.Glu40=
ENST00000351593.9:c.-88+80565C>T (ELAVL1) ENSP00000264073.6:n.-88+80565C>T
ENST00000393962.6:c.120G>A (ANGPTL4) ENSP00000377534.1:p.Glu40=
ENST00000593998.5:c.120G>A (ANGPTL4) ENSP00000472551.1:p.Glu40=
ENST00000594348.1:n.273G>A (ANGPTL4)
ENST00000594875.1:c.44G>A (ANGPTL4)
ENST00000595079.5:c.120G>A (ANGPTL4) ENSP00000473025.1:p.Glu40=
ENST00000597137.5:n.64+1079G>A (ANGPTL4)
ENST00000598255.5:n.276G>A (ANGPTL4)
ENST00000599192.5:c.120G>A (ANGPTL4) ENSP00000473090.1:p.Glu40=
ENST00000601770.1:c.120G>A (ANGPTL4) ENSP00000471345.1:p.Glu40=
ENST00000601886.1:c.120G>A (ANGPTL4) ENSP00000470307.1:p.Glu40=
XM_005272484.2:c.120G>A (ANGPTL4) XP_005272541.1:p.Glu40=
XM_005272484.3:c.120G>A (ANGPTL4) XP_005272541.1:p.Glu40=
XM_005272485.2:c.120G>A (ANGPTL4) XP_005272542.1:p.Glu40=
XM_005272485.3:c.120G>A (ANGPTL4) XP_005272542.1:p.Glu40=