Canonical Allele Identifier: CA382740515

Gene: APOA5

Linked Data

• dbSNP Id: rs1941001439
• gnomAD v4: 11-116791062-A-G
• MyVariant Identifiers: chr11:g.116661778A>G (hg19) ; chr11:g.116791062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116791062A>G , CM000673.2:g.116791062A>G	GRCh38
NC_000011.9:g.116661778A>G , CM000673.1:g.116661778A>G	GRCh37
NC_000011.8:g.116166988A>G	NCBI36
NG_015894.1:g.6359T>C
NG_015894.2:g.6359T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000227665.9:c.167T>C MANE Select	ENSP00000227665.4:p.Leu56Pro
ENST00000433069.2:c.167T>C	ENSP00000399701.2:p.Leu56Pro
ENST00000673688.1:c.251T>C	ENSP00000501141.1:p.Leu84Pro
ENST00000227665.8:c.167T>C	ENSP00000227665.4:p.Leu56Pro
ENST00000433069.1:c.167T>C	ENSP00000399701.1:p.Leu56Pro
ENST00000542499.5:c.167T>C	ENSP00000445002.1:p.Leu56Pro
NM_001166598.1:c.167T>C	NP_001160070.1:p.Leu56Pro
NM_052968.4:c.167T>C	NP_443200.2:p.Leu56Pro
NM_001166598.2:c.167T>C	NP_001160070.1:p.Leu56Pro
NM_001371904.1:c.167T>C MANE Select	NP_001358833.1:p.Leu56Pro
NM_052968.5:c.167T>C	NP_443200.2:p.Leu56Pro