Canonical Allele Identifier: CA382738253

Gene: APOA5

Linked Data

• gnomAD v4: 11-116790717-G-T
• COSMIC: COSM4994938
• MyVariant Identifiers: chr11:g.116661433G>T (hg19) ; chr11:g.116790717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790717G>T , CM000673.2:g.116790717G>T	GRCh38
NC_000011.9:g.116661433G>T , CM000673.1:g.116661433G>T	GRCh37
NC_000011.8:g.116166643G>T	NCBI36
NG_015894.1:g.6704C>A
NG_015894.2:g.6704C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.512C>A MANE Select	ENSP00000227665.4:p.Ala171Asp
ENST00000433069.2:c.512C>A	ENSP00000399701.2:p.Ala171Asp
ENST00000673688.1:c.596C>A	ENSP00000501141.1:p.Ala199Asp
ENST00000227665.8:c.512C>A	ENSP00000227665.4:p.Ala171Asp
ENST00000542499.5:c.512C>A	ENSP00000445002.1:p.Ala171Asp
NM_001166598.1:c.512C>A	NP_001160070.1:p.Ala171Asp
NM_052968.4:c.512C>A	NP_443200.2:p.Ala171Asp
NM_001166598.2:c.512C>A	NP_001160070.1:p.Ala171Asp
NM_001371904.1:c.512C>A MANE Select	NP_001358833.1:p.Ala171Asp
NM_052968.5:c.512C>A	NP_443200.2:p.Ala171Asp