Canonical Allele Identifier: CA6289118

Gene: APOA5

Linked Data

• ClinVar Variation Id: 779436
• ClinVar RCV Id: RCV000960273 ; RCV002400116 ; RCV003323767
• dbSNP Id: rs138300114
• ExAC: 11:116661780 G / C
• gnomAD v2: 11-116661780-G-C
• gnomAD v3: 11-116791064-G-C
• gnomAD v4: 11-116791064-G-C
• MyVariant Identifiers: chr11:g.116661780G>C (hg19) ; chr11:g.116791064G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116791064G>C , CM000673.2:g.116791064G>C	GRCh38
NC_000011.9:g.116661780G>C , CM000673.1:g.116661780G>C	GRCh37
NC_000011.8:g.116166990G>C	NCBI36
NG_015894.1:g.6357C>G
NG_015894.2:g.6357C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.165C>G MANE Select	ENSP00000227665.4:p.Thr55=
ENST00000433069.2:c.165C>G	ENSP00000399701.2:p.Thr55=
ENST00000673688.1:c.249C>G	ENSP00000501141.1:p.Thr83=
ENST00000227665.8:c.165C>G	ENSP00000227665.4:p.Thr55=
ENST00000433069.1:c.165C>G	ENSP00000399701.1:p.Thr55=
ENST00000542499.5:c.165C>G	ENSP00000445002.1:p.Thr55=
NM_001166598.1:c.165C>G	NP_001160070.1:p.Thr55=
NM_052968.4:c.165C>G	NP_443200.2:p.Thr55=
NM_001166598.2:c.165C>G	NP_001160070.1:p.Thr55=
NM_001371904.1:c.165C>G MANE Select	NP_001358833.1:p.Thr55=
NM_052968.5:c.165C>G	NP_443200.2:p.Thr55=