Canonical Allele Identifier: CA374325131

Gene: ABCA1

Linked Data

• dbSNP Id: rs1176619154
• gnomAD v2: 9-107594079-T-C
• gnomAD v4: 9-104831798-T-C
• MyVariant Identifiers: chr9:g.107594079T>C (hg19) ; chr9:g.104831798T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831798T>C , CM000671.2:g.104831798T>C	GRCh38
NC_000009.11:g.107594079T>C , CM000671.1:g.107594079T>C	GRCh37
NC_000009.10:g.106633900T>C	NCBI36
NG_007981.1:g.101358A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1539A>G MANE Select	ENSP00000363868.3:p.Ile513Met
ENST00000678995.1:c.1539A>G	ENSP00000504612.1:p.Ile513Met
ENST00000374736.7:c.1539A>G	ENSP00000363868.3:p.Ile513Met
NM_005502.3:c.1539A>G	NP_005493.2:p.Ile513Met
XM_005251773.1:c.1539A>G	XP_005251830.1:p.Ile513Met
XM_005251776.1:c.1359A>G	XP_005251833.1:p.Ile453Met
XM_011518339.1:c.1614A>G	XP_011516641.1:p.Ile538Met
XM_011518340.1:c.1614A>G	XP_011516642.1:p.Ile538Met
XM_011518341.1:c.1614A>G	XP_011516643.1:p.Ile538Met
XM_011518342.1:c.1176A>G	XP_011516644.1:p.Ile392Met
XM_011518343.1:c.1614A>G	XP_011516645.1:p.Ile538Met
XM_011518344.1:c.1614A>G	XP_011516646.1:p.Ile538Met
XM_005251773.3:c.1539A>G	XP_005251830.1:p.Ile513Met
XM_005251776.3:c.1359A>G	XP_005251833.1:p.Ile453Met
XM_011518339.3:c.1614A>G	XP_011516641.1:p.Ile538Met
XM_011518340.3:c.1614A>G	XP_011516642.1:p.Ile538Met
XM_011518341.3:c.1614A>G	XP_011516643.1:p.Ile538Met
XM_011518342.3:c.1176A>G	XP_011516644.1:p.Ile392Met
XM_011518344.2:c.1614A>G	XP_011516646.1:p.Ile538Met
XM_017014378.2:c.1614A>G	XP_016869867.1:p.Ile538Met
XM_017014379.2:c.1614A>G	XP_016869868.1:p.Ile538Met
XM_017014380.2:c.1614A>G	XP_016869869.1:p.Ile538Met
XM_017014381.2:c.1614A>G	XP_016869870.1:p.Ile538Met
XM_017014382.2:c.1476A>G	XP_016869871.1:p.Ile492Met
XR_001746223.1:n.1927A>G
NM_005502.4:c.1539A>G MANE Select	NP_005493.2:p.Ile513Met