Canonical Allele Identifier: CA382737964
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567114
ClinVar RCV Id: RCV003278339
dbSNP Id: rs1166692949
gnomAD v2: 11-116661359-C-T
gnomAD v3: 11-116790643-C-T
gnomAD v4: 11-116790643-C-T
MyVariant Identifiers: chr11:g.116661359C>T (hg19) chr11:g.116790643C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790643C>T , CM000673.2:g.116790643C>T GRCh38
NC_000011.9:g.116661359C>T , CM000673.1:g.116661359C>T GRCh37
NC_000011.8:g.116166569C>T NCBI36
NG_015894.1:g.6778G>A
NG_015894.2:g.6778G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.586G>A MANE Select ENSP00000227665.4:p.Glu196Lys
ENST00000433069.2:c.586G>A ENSP00000399701.2:p.Glu196Lys
ENST00000673688.1:c.670G>A ENSP00000501141.1:p.Glu224Lys
ENST00000227665.8:c.586G>A ENSP00000227665.4:p.Glu196Lys
ENST00000542499.5:c.586G>A ENSP00000445002.1:p.Glu196Lys
NM_001166598.1:c.586G>A NP_001160070.1:p.Glu196Lys
NM_052968.4:c.586G>A NP_443200.2:p.Glu196Lys
NM_001166598.2:c.586G>A NP_001160070.1:p.Glu196Lys
NM_001371904.1:c.586G>A MANE Select NP_001358833.1:p.Glu196Lys
NM_052968.5:c.586G>A NP_443200.2:p.Glu196Lys
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