Canonical Allele Identifier: CA382739572

Gene: APOA5

Linked Data

• ClinVar Variation Id: 2581642
• ClinVar RCV Id: RCV003332047
• MyVariant Identifiers: chr11:g.116661671T>C (hg19) ; chr11:g.116790955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790955T>C , CM000673.2:g.116790955T>C	GRCh38
NC_000011.9:g.116661671T>C , CM000673.1:g.116661671T>C	GRCh37
NC_000011.8:g.116166881T>C	NCBI36
NG_015894.1:g.6466A>G
NG_015894.2:g.6466A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.274A>G MANE Select	ENSP00000227665.4:p.Met92Val
ENST00000433069.2:c.274A>G	ENSP00000399701.2:p.Met92Val
ENST00000673688.1:c.358A>G	ENSP00000501141.1:p.Met120Val
ENST00000227665.8:c.274A>G	ENSP00000227665.4:p.Met92Val
ENST00000433069.1:c.274A>G	ENSP00000399701.1:p.Met92Val
ENST00000542499.5:c.274A>G	ENSP00000445002.1:p.Met92Val
NM_001166598.1:c.274A>G	NP_001160070.1:p.Met92Val
NM_052968.4:c.274A>G	NP_443200.2:p.Met92Val
NM_001166598.2:c.274A>G	NP_001160070.1:p.Met92Val
NM_001371904.1:c.274A>G MANE Select	NP_001358833.1:p.Met92Val
NM_052968.5:c.274A>G	NP_443200.2:p.Met92Val