Canonical Allele Identifier: CA382715286

Gene: APOA1

Linked Data

• ClinVar Variation Id: 1747282
• ClinVar RCV Id: RCV002347242
• gnomAD v4: 11-116836073-A-G
• MyVariant Identifiers: chr11:g.116706789A>G (hg19) ; chr11:g.116836073A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836073A>G , CM000673.2:g.116836073A>G	GRCh38
NC_000011.9:g.116706789A>G , CM000673.1:g.116706789A>G	GRCh37
NC_000011.8:g.116211999A>G	NCBI36
NG_012021.1:g.6550T>C , LRG_767:g.6550T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.539T>C MANE Select	ENSP00000236850.3:p.Val180Ala
ENST00000236850.4:c.539T>C	ENSP00000236850.3:p.Val180Ala
ENST00000359492.6:c.539T>C	ENSP00000352471.2:p.Val180Ala
ENST00000375320.5:c.539T>C	ENSP00000364469.1:p.Val180Ala
ENST00000375323.5:c.539T>C	ENSP00000364472.1:p.Val180Ala
ENST00000375329.6:c.473T>C	ENSP00000364478.2:p.Val158Ala
NM_000039.1:c.539T>C , LRG_767t1:c.539T>C	NP_000030.1:p.Val180Ala
XM_005271539.2:c.539T>C	XP_005271596.1:p.Val180Ala
XM_005271540.1:c.539T>C	XP_005271597.1:p.Val180Ala
NM_000039.2:c.539T>C	NP_000030.1:p.Val180Ala
NM_001318017.1:c.539T>C	NP_001304946.1:p.Val180Ala
NM_001318018.1:c.539T>C	NP_001304947.1:p.Val180Ala
NM_001318021.1:c.212T>C	NP_001304950.1:p.Val71Ala
NM_001318017.2:c.539T>C	NP_001304946.1:p.Val180Ala
NM_001318018.2:c.539T>C	NP_001304947.1:p.Val180Ala
NM_000039.3:c.539T>C MANE Select	NP_000030.1:p.Val180Ala