Canonical Allele Identifier: CA6289076
Gene: APOA5 HGNC NCBI

Linked Data

ClinVar Variation Id: 496496
ClinVar RCV Id: RCV000589031 RCV002341508
dbSNP Id: rs3135507
ExAC: 11:116661488 C / T
gnomAD v2: 11-116661488-C-T
gnomAD v3: 11-116790772-C-T
gnomAD v4: 11-116790772-C-T
MyVariant Identifiers: chr11:g.116661488C>T (hg19) chr11:g.116790772C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116790772C>T , CM000673.2:g.116790772C>T GRCh38
NC_000011.9:g.116661488C>T , CM000673.1:g.116661488C>T GRCh37
NC_000011.8:g.116166698C>T NCBI36
NG_015894.1:g.6649G>A
NG_015894.2:g.6649G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000227665.9:c.457G>A MANE Select ENSP00000227665.4:p.Val153Met
ENST00000433069.2:c.457G>A ENSP00000399701.2:p.Val153Met
ENST00000673688.1:c.541G>A ENSP00000501141.1:p.Val181Met
ENST00000227665.8:c.457G>A ENSP00000227665.4:p.Val153Met
ENST00000433069.1:c.457G>A ENSP00000399701.1:p.Val153Met
ENST00000542499.5:c.457G>A ENSP00000445002.1:p.Val153Met
NM_001166598.1:c.457G>A NP_001160070.1:p.Val153Met
NM_052968.4:c.457G>A NP_443200.2:p.Val153Met
NM_001166598.2:c.457G>A NP_001160070.1:p.Val153Met
NM_001371904.1:c.457G>A MANE Select NP_001358833.1:p.Val153Met
NM_052968.5:c.457G>A NP_443200.2:p.Val153Met
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