Canonical Allele Identifier: CA382737962

Gene: APOA5

Linked Data

• dbSNP Id: rs1166692949
• gnomAD v2: 11-116661359-C-G
• gnomAD v4: 11-116790643-C-G
• MyVariant Identifiers: chr11:g.116661359C>G (hg19) ; chr11:g.116790643C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.586G>C MANE Select	ENSP00000227665.4:p.Glu196Gln
ENST00000433069.2:c.586G>C	ENSP00000399701.2:p.Glu196Gln
ENST00000673688.1:c.670G>C	ENSP00000501141.1:p.Glu224Gln
ENST00000227665.8:c.586G>C	ENSP00000227665.4:p.Glu196Gln
ENST00000542499.5:c.586G>C	ENSP00000445002.1:p.Glu196Gln
NM_001166598.1:c.586G>C	NP_001160070.1:p.Glu196Gln
NM_052968.4:c.586G>C	NP_443200.2:p.Glu196Gln
NM_001166598.2:c.586G>C	NP_001160070.1:p.Glu196Gln
NM_001371904.1:c.586G>C MANE Select	NP_001358833.1:p.Glu196Gln
NM_052968.5:c.586G>C	NP_443200.2:p.Glu196Gln