Canonical Allele Identifier: CA382739507

Gene: APOA5

Linked Data

• ClinVar Variation Id: 1796430
• ClinVar RCV Id: RCV002441804
• dbSNP Id: rs778302124
• gnomAD v2: 11-116661664-C-T
• gnomAD v3: 11-116790948-C-T
• gnomAD v4: 11-116790948-C-T
• MyVariant Identifiers: chr11:g.116661664C>T (hg19) ; chr11:g.116790948C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790948C>T , CM000673.2:g.116790948C>T	GRCh38
NC_000011.9:g.116661664C>T , CM000673.1:g.116661664C>T	GRCh37
NC_000011.8:g.116166874C>T	NCBI36
NG_015894.1:g.6473G>A
NG_015894.2:g.6473G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.281G>A MANE Select	ENSP00000227665.4:p.Arg94Gln
ENST00000433069.2:c.281G>A	ENSP00000399701.2:p.Arg94Gln
ENST00000673688.1:c.365G>A	ENSP00000501141.1:p.Arg122Gln
ENST00000227665.8:c.281G>A	ENSP00000227665.4:p.Arg94Gln
ENST00000433069.1:c.281G>A	ENSP00000399701.1:p.Arg94Gln
ENST00000542499.5:c.281G>A	ENSP00000445002.1:p.Arg94Gln
NM_001166598.1:c.281G>A	NP_001160070.1:p.Arg94Gln
NM_052968.4:c.281G>A	NP_443200.2:p.Arg94Gln
NM_001166598.2:c.281G>A	NP_001160070.1:p.Arg94Gln
NM_001371904.1:c.281G>A MANE Select	NP_001358833.1:p.Arg94Gln
NM_052968.5:c.281G>A	NP_443200.2:p.Arg94Gln