Canonical Allele Identifier: CA2580083483

Gene: APOA1

Linked Data

• ClinVar Variation Id: 2023977
• ClinVar RCV Id: RCV002862974

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836020_116836035dup , CM000673.2:g.116836020_116836035dup	GRCh38
NC_000011.9:g.116706736_116706751dup , CM000673.1:g.116706736_116706751dup	GRCh37
NC_000011.8:g.116211946_116211961dup	NCBI36
NG_012021.1:g.6588_6603dup , LRG_767:g.6588_6603dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.577_592dup MANE Select	ENSP00000236850.3:p.Leu198Ter
ENST00000236850.4:c.577_592dup	ENSP00000236850.3:p.Leu198Ter
ENST00000359492.6:c.577_592dup	ENSP00000352471.2:p.Leu198Ter
ENST00000375320.5:c.577_592dup	ENSP00000364469.1:p.Leu198Ter
ENST00000375323.5:c.577_592dup	ENSP00000364472.1:p.Leu198Ter
ENST00000375329.6:c.511_526dup	ENSP00000364478.2:p.Leu176Ter
NM_000039.1:c.577_592dup , LRG_767t1:c.577_592dup	NP_000030.1:p.Leu198Ter
XM_005271539.2:c.577_592dup	XP_005271596.1:p.Leu198Ter
XM_005271540.1:c.577_592dup	XP_005271597.1:p.Leu198Ter
NM_000039.2:c.577_592dup	NP_000030.1:p.Leu198Ter
NM_001318017.1:c.577_592dup	NP_001304946.1:p.Leu198Ter
NM_001318018.1:c.577_592dup	NP_001304947.1:p.Leu198Ter
NM_001318021.1:c.250_265dup	NP_001304950.1:p.Leu89Ter
NM_001318017.2:c.577_592dup	NP_001304946.1:p.Leu198Ter
NM_001318018.2:c.577_592dup	NP_001304947.1:p.Leu198Ter
NM_000039.3:c.577_592dup MANE Select	NP_000030.1:p.Leu198Ter