Canonical Allele Identifier: CA382734271

Gene: APOA5

Linked Data

• ClinVar Variation Id: 2841830
• ClinVar RCV Id: RCV003721174
• dbSNP Id: rs1591312418
• gnomAD v4: 11-116790201-C-G
• MyVariant Identifiers: chr11:g.116660917C>G (hg19) ; chr11:g.116790201C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790201C>G , CM000673.2:g.116790201C>G	GRCh38
NC_000011.9:g.116660917C>G , CM000673.1:g.116660917C>G	GRCh37
NC_000011.8:g.116166127C>G	NCBI36
NG_015894.1:g.7220G>C
NG_015894.2:g.7220G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227665.9:c.1028G>C MANE Select	ENSP00000227665.4:p.Arg343Pro
ENST00000433069.2:c.1028G>C	ENSP00000399701.2:p.Arg343Pro
ENST00000673688.1:c.1112G>C	ENSP00000501141.1:p.Arg371Pro
ENST00000227665.8:c.1028G>C	ENSP00000227665.4:p.Arg343Pro
ENST00000542499.5:c.1028G>C	ENSP00000445002.1:p.Arg343Pro
NM_001166598.1:c.1028G>C	NP_001160070.1:p.Arg343Pro
NM_052968.4:c.1028G>C	NP_443200.2:p.Arg343Pro
NM_001166598.2:c.1028G>C	NP_001160070.1:p.Arg343Pro
NM_001371904.1:c.1028G>C MANE Select	NP_001358833.1:p.Arg343Pro
NM_052968.5:c.1028G>C	NP_443200.2:p.Arg343Pro