Canonical Allele Identifier: CA382734968

Gene: APOA5

Linked Data

• dbSNP Id: rs1374538057
• gnomAD v2: 11-116661017-C-G
• gnomAD v4: 11-116790301-C-G
• MyVariant Identifiers: chr11:g.116661017C>G (hg19) ; chr11:g.116790301C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790301C>G , CM000673.2:g.116790301C>G	GRCh38
NC_000011.9:g.116661017C>G , CM000673.1:g.116661017C>G	GRCh37
NC_000011.8:g.116166227C>G	NCBI36
NG_015894.1:g.7120G>C
NG_015894.2:g.7120G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000227665.9:c.928G>C MANE Select	ENSP00000227665.4:p.Val310Leu
ENST00000433069.2:c.928G>C	ENSP00000399701.2:p.Val310Leu
ENST00000673688.1:c.1012G>C	ENSP00000501141.1:p.Val338Leu
ENST00000227665.8:c.928G>C	ENSP00000227665.4:p.Val310Leu
ENST00000542499.5:c.928G>C	ENSP00000445002.1:p.Val310Leu
NM_001166598.1:c.928G>C	NP_001160070.1:p.Val310Leu
NM_052968.4:c.928G>C	NP_443200.2:p.Val310Leu
NM_001166598.2:c.928G>C	NP_001160070.1:p.Val310Leu
NM_001371904.1:c.928G>C MANE Select	NP_001358833.1:p.Val310Leu
NM_052968.5:c.928G>C	NP_443200.2:p.Val310Leu