Canonical Allele Identifier: CA382738202

Gene: APOA5

Linked Data

• dbSNP Id: rs1940991473
• gnomAD v4: 11-116790693-C-A
• MyVariant Identifiers: chr11:g.116661409C>A (hg19) ; chr11:g.116790693C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790693C>A , CM000673.2:g.116790693C>A	GRCh38
NC_000011.9:g.116661409C>A , CM000673.1:g.116661409C>A	GRCh37
NC_000011.8:g.116166619C>A	NCBI36
NG_015894.1:g.6728G>T
NG_015894.2:g.6728G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.536G>T MANE Select	ENSP00000227665.4:p.Arg179Leu
ENST00000433069.2:c.536G>T	ENSP00000399701.2:p.Arg179Leu
ENST00000673688.1:c.620G>T	ENSP00000501141.1:p.Arg207Leu
ENST00000227665.8:c.536G>T	ENSP00000227665.4:p.Arg179Leu
ENST00000542499.5:c.536G>T	ENSP00000445002.1:p.Arg179Leu
NM_001166598.1:c.536G>T	NP_001160070.1:p.Arg179Leu
NM_052968.4:c.536G>T	NP_443200.2:p.Arg179Leu
NM_001166598.2:c.536G>T	NP_001160070.1:p.Arg179Leu
NM_001371904.1:c.536G>T MANE Select	NP_001358833.1:p.Arg179Leu
NM_052968.5:c.536G>T	NP_443200.2:p.Arg179Leu