Canonical Allele Identifier: CA374314231

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 1744489
• ClinVar RCV Id: RCV002342862
• dbSNP Id: rs1830086492
• MyVariant Identifiers: chr9:g.107560848T>C (hg19) ; chr9:g.104798567T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798567T>C , CM000671.2:g.104798567T>C	GRCh38
NC_000009.11:g.107560848T>C , CM000671.1:g.107560848T>C	GRCh37
NC_000009.10:g.106600669T>C	NCBI36
NG_007981.1:g.134589A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4975A>G MANE Select	ENSP00000363868.3:p.Ile1659Val
ENST00000678995.1:c.4981A>G	ENSP00000504612.1:p.Ile1661Val
ENST00000374736.7:c.4975A>G	ENSP00000363868.3:p.Ile1659Val
NM_005502.3:c.4975A>G	NP_005493.2:p.Ile1659Val
XM_005251773.1:c.4981A>G	XP_005251830.1:p.Ile1661Val
XM_005251776.1:c.4801A>G	XP_005251833.1:p.Ile1601Val
XM_011518339.1:c.5056A>G	XP_011516641.1:p.Ile1686Val
XM_011518340.1:c.5056A>G	XP_011516642.1:p.Ile1686Val
XM_011518341.1:c.5050A>G	XP_011516643.1:p.Ile1684Val
XM_011518342.1:c.4618A>G	XP_011516644.1:p.Ile1540Val
XM_011518343.1:c.5056A>G	XP_011516645.1:p.Ile1686Val
XM_005251773.3:c.4981A>G	XP_005251830.1:p.Ile1661Val
XM_005251776.3:c.4801A>G	XP_005251833.1:p.Ile1601Val
XM_011518339.3:c.5056A>G	XP_011516641.1:p.Ile1686Val
XM_011518340.3:c.5056A>G	XP_011516642.1:p.Ile1686Val
XM_011518341.3:c.5050A>G	XP_011516643.1:p.Ile1684Val
XM_011518342.3:c.4618A>G	XP_011516644.1:p.Ile1540Val
XM_017014378.2:c.5056A>G	XP_016869867.1:p.Ile1686Val
XM_017014379.2:c.5056A>G	XP_016869868.1:p.Ile1686Val
XM_017014380.2:c.5056A>G	XP_016869869.1:p.Ile1686Val
XM_017014381.2:c.5056A>G	XP_016869870.1:p.Ile1686Val
XM_017014382.2:c.4918A>G	XP_016869871.1:p.Ile1640Val
XR_001746223.1:n.5369A>G
NM_005502.4:c.4975A>G MANE Select	NP_005493.2:p.Ile1659Val