Canonical Allele Identifier: CA382734166

Gene: APOA5

Linked Data

• MyVariant Identifiers: chr11:g.116660901C>G (hg19) ; chr11:g.116790185C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116790185C>G , CM000673.2:g.116790185C>G	GRCh38
NC_000011.9:g.116660901C>G , CM000673.1:g.116660901C>G	GRCh37
NC_000011.8:g.116166111C>G	NCBI36
NG_015894.1:g.7236G>C
NG_015894.2:g.7236G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.1044G>C MANE Select	ENSP00000227665.4:p.Trp348Cys
ENST00000433069.2:c.1044G>C	ENSP00000399701.2:p.Trp348Cys
ENST00000673688.1:c.1128G>C	ENSP00000501141.1:p.Trp376Cys
ENST00000227665.8:c.1044G>C	ENSP00000227665.4:p.Trp348Cys
ENST00000542499.5:c.1044G>C	ENSP00000445002.1:p.Trp348Cys
NM_001166598.1:c.1044G>C	NP_001160070.1:p.Trp348Cys
NM_052968.4:c.1044G>C	NP_443200.2:p.Trp348Cys
NM_001166598.2:c.1044G>C	NP_001160070.1:p.Trp348Cys
NM_001371904.1:c.1044G>C MANE Select	NP_001358833.1:p.Trp348Cys
NM_052968.5:c.1044G>C	NP_443200.2:p.Trp348Cys