Canonical Allele Identifier: CA116845
Gene: APOA5 HGNC NCBI
COSMIC:
COSM3979146 (not active)
MyVariant.info:
GRCh38 chr11:g.116791691G>C
GRCh37 chr11:g.116662407G>C
Revel Score:
ENST00000227665 (MANE Select) 0.223
ENST00000542499 0.223
ENST00000433069 0.223
gnomAD v2:
11:116662407 G / C
gnomAD v3:
11:116791691 G / C
gnomAD v4:
chr11-116791691-G-C
Joint Max Group AF 0.13562772 (AMR)
Genomes Max Group AF 0.10908597 (AMR)
Exomes Max Group AF 0.14374859 (AMR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116791691G>C , CM000673.2:g.116791691G>C GRCh38
NC_000011.9:g.116662407G>C , CM000673.1:g.116662407G>C GRCh37
NC_000011.8:g.116167617G>C NCBI36
NG_015894.1:g.5730C>G
NG_015894.2:g.5730C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.56C>G MANE Select ENSP00000227665.4:p.Ser19Trp
ENST00000433069.2:c.56C>G ENSP00000399701.2:p.Ser19Trp
ENST00000673688.1:c.56C>G ENSP00000501141.1:p.Ser19Trp
ENST00000227665.8:c.56C>G ENSP00000227665.4:p.Ser19Trp
ENST00000433069.1:c.56C>G ENSP00000399701.1:p.Ser19Trp
ENST00000542499.5:c.56C>G ENSP00000445002.1:p.Ser19Trp
NM_001166598.1:c.56C>G NP_001160070.1:p.Ser19Trp
NM_052968.4:c.56C>G NP_443200.2:p.Ser19Trp
NM_001166598.2:c.56C>G NP_001160070.1:p.Ser19Trp
NM_001371904.1:c.56C>G MANE Select NP_001358833.1:p.Ser19Trp
NM_052968.5:c.56C>G NP_443200.2:p.Ser19Trp
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