Canonical Allele Identifier: CA374321243

Gene: ABCA1

Linked Data

• COSMIC: COSM5486677
• MyVariant Identifiers: chr9:g.107588068G>T (hg19) ; chr9:g.104825787G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104825787G>T , CM000671.2:g.104825787G>T	GRCh38
NC_000009.11:g.107588068G>T , CM000671.1:g.107588068G>T	GRCh37
NC_000009.10:g.106627889G>T	NCBI36
NG_007981.1:g.107369C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.2438C>A MANE Select	ENSP00000363868.3:p.Pro813His
ENST00000678995.1:c.2438C>A	ENSP00000504612.1:p.Pro813His
ENST00000374736.7:c.2438C>A	ENSP00000363868.3:p.Pro813His
ENST00000494467.1:n.611C>A
NM_005502.3:c.2438C>A	NP_005493.2:p.Pro813His
XM_005251773.1:c.2438C>A	XP_005251830.1:p.Pro813His
XM_005251776.1:c.2258C>A	XP_005251833.1:p.Pro753His
XM_011518339.1:c.2513C>A	XP_011516641.1:p.Pro838His
XM_011518340.1:c.2513C>A	XP_011516642.1:p.Pro838His
XM_011518341.1:c.2513C>A	XP_011516643.1:p.Pro838His
XM_011518342.1:c.2075C>A	XP_011516644.1:p.Pro692His
XM_011518343.1:c.2513C>A	XP_011516645.1:p.Pro838His
XM_011518344.1:c.2513C>A	XP_011516646.1:p.Pro838His
XM_005251773.3:c.2438C>A	XP_005251830.1:p.Pro813His
XM_005251776.3:c.2258C>A	XP_005251833.1:p.Pro753His
XM_011518339.3:c.2513C>A	XP_011516641.1:p.Pro838His
XM_011518340.3:c.2513C>A	XP_011516642.1:p.Pro838His
XM_011518341.3:c.2513C>A	XP_011516643.1:p.Pro838His
XM_011518342.3:c.2075C>A	XP_011516644.1:p.Pro692His
XM_011518344.2:c.2513C>A	XP_011516646.1:p.Pro838His
XM_017014378.2:c.2513C>A	XP_016869867.1:p.Pro838His
XM_017014379.2:c.2513C>A	XP_016869868.1:p.Pro838His
XM_017014380.2:c.2513C>A	XP_016869869.1:p.Pro838His
XM_017014381.2:c.2513C>A	XP_016869870.1:p.Pro838His
XM_017014382.2:c.2375C>A	XP_016869871.1:p.Pro792His
XR_001746223.1:n.2826C>A
NM_005502.4:c.2438C>A MANE Select	NP_005493.2:p.Pro813His