Canonical Allele Identifier: CA374314288

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104798595-C-A
• MyVariant Identifiers: chr9:g.107560876C>A (hg19) ; chr9:g.104798595C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798595C>A , CM000671.2:g.104798595C>A	GRCh38
NC_000009.11:g.107560876C>A , CM000671.1:g.107560876C>A	GRCh37
NC_000009.10:g.106600697C>A	NCBI36
NG_007981.1:g.134561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4947G>T MANE Select	ENSP00000363868.3:p.Met1649Ile
ENST00000678995.1:c.4953G>T	ENSP00000504612.1:p.Met1651Ile
ENST00000374736.7:c.4947G>T	ENSP00000363868.3:p.Met1649Ile
NM_005502.3:c.4947G>T	NP_005493.2:p.Met1649Ile
XM_005251773.1:c.4953G>T	XP_005251830.1:p.Met1651Ile
XM_005251776.1:c.4773G>T	XP_005251833.1:p.Met1591Ile
XM_011518339.1:c.5028G>T	XP_011516641.1:p.Met1676Ile
XM_011518340.1:c.5028G>T	XP_011516642.1:p.Met1676Ile
XM_011518341.1:c.5022G>T	XP_011516643.1:p.Met1674Ile
XM_011518342.1:c.4590G>T	XP_011516644.1:p.Met1530Ile
XM_011518343.1:c.5028G>T	XP_011516645.1:p.Met1676Ile
XM_005251773.3:c.4953G>T	XP_005251830.1:p.Met1651Ile
XM_005251776.3:c.4773G>T	XP_005251833.1:p.Met1591Ile
XM_011518339.3:c.5028G>T	XP_011516641.1:p.Met1676Ile
XM_011518340.3:c.5028G>T	XP_011516642.1:p.Met1676Ile
XM_011518341.3:c.5022G>T	XP_011516643.1:p.Met1674Ile
XM_011518342.3:c.4590G>T	XP_011516644.1:p.Met1530Ile
XM_017014378.2:c.5028G>T	XP_016869867.1:p.Met1676Ile
XM_017014379.2:c.5028G>T	XP_016869868.1:p.Met1676Ile
XM_017014380.2:c.5028G>T	XP_016869869.1:p.Met1676Ile
XM_017014381.2:c.5028G>T	XP_016869870.1:p.Met1676Ile
XM_017014382.2:c.4890G>T	XP_016869871.1:p.Met1630Ile
XR_001746223.1:n.5341G>T
NM_005502.4:c.4947G>T MANE Select	NP_005493.2:p.Met1649Ile