Canonical Allele Identifier: CA6289773

Gene: APOA1

Linked Data

• ClinVar Variation Id: 1306552
• ClinVar RCV Id: RCV001770732 ; RCV003375352
• dbSNP Id: rs781353714
• ExAC: 11:116706717 G / A
• gnomAD v2: 11-116706717-G-A
• gnomAD v3: 11-116836001-G-A
• gnomAD v4: 11-116836001-G-A
• MyVariant Identifiers: chr11:g.116706717G>A (hg19) ; chr11:g.116836001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836001G>A , CM000673.2:g.116836001G>A	GRCh38
NC_000011.9:g.116706717G>A , CM000673.1:g.116706717G>A	GRCh37
NC_000011.8:g.116211927G>A	NCBI36
NG_012021.1:g.6622C>T , LRG_767:g.6622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236850.5:c.611C>T MANE Select	ENSP00000236850.3:p.Ala204Val
ENST00000236850.4:c.611C>T	ENSP00000236850.3:p.Ala204Val
ENST00000359492.6:c.611C>T	ENSP00000352471.2:p.Ala204Val
ENST00000375320.5:c.611C>T	ENSP00000364469.1:p.Ala204Val
ENST00000375323.5:c.611C>T	ENSP00000364472.1:p.Ala204Val
ENST00000375329.6:c.545C>T	ENSP00000364478.2:p.Ala182Val
NM_000039.1:c.611C>T , LRG_767t1:c.611C>T	NP_000030.1:p.Ala204Val
XM_005271539.2:c.611C>T	XP_005271596.1:p.Ala204Val
XM_005271540.1:c.611C>T	XP_005271597.1:p.Ala204Val
NM_000039.2:c.611C>T	NP_000030.1:p.Ala204Val
NM_001318017.1:c.611C>T	NP_001304946.1:p.Ala204Val
NM_001318018.1:c.611C>T	NP_001304947.1:p.Ala204Val
NM_001318021.1:c.284C>T	NP_001304950.1:p.Ala95Val
NM_001318017.2:c.611C>T	NP_001304946.1:p.Ala204Val
NM_001318018.2:c.611C>T	NP_001304947.1:p.Ala204Val
NM_000039.3:c.611C>T MANE Select	NP_000030.1:p.Ala204Val