Canonical Allele Identifier: CA6288960

Gene: APOA5

Linked Data

• ClinVar Variation Id: 2452822
• ClinVar RCV Id: RCV003177596
• dbSNP Id: rs772118863
• ExAC: 11:116661026 T / C
• gnomAD v2: 11-116661026-T-C
• gnomAD v3: 11-116790310-T-C
• gnomAD v4: 11-116790310-T-C
• MyVariant Identifiers: chr11:g.116661026T>C (hg19) ; chr11:g.116790310T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790310T>C , CM000673.2:g.116790310T>C	GRCh38
NC_000011.9:g.116661026T>C , CM000673.1:g.116661026T>C	GRCh37
NC_000011.8:g.116166236T>C	NCBI36
NG_015894.1:g.7111A>G
NG_015894.2:g.7111A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000227665.9:c.919A>G MANE Select	ENSP00000227665.4:p.Thr307Ala
ENST00000433069.2:c.919A>G	ENSP00000399701.2:p.Thr307Ala
ENST00000673688.1:c.1003A>G	ENSP00000501141.1:p.Thr335Ala
ENST00000227665.8:c.919A>G	ENSP00000227665.4:p.Thr307Ala
ENST00000542499.5:c.919A>G	ENSP00000445002.1:p.Thr307Ala
NM_001166598.1:c.919A>G	NP_001160070.1:p.Thr307Ala
NM_052968.4:c.919A>G	NP_443200.2:p.Thr307Ala
NM_001166598.2:c.919A>G	NP_001160070.1:p.Thr307Ala
NM_001371904.1:c.919A>G MANE Select	NP_001358833.1:p.Thr307Ala
NM_052968.5:c.919A>G	NP_443200.2:p.Thr307Ala