Canonical Allele Identifier: CA466504341

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107568588G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806307G>A , CM000671.2:g.104806307G>A	GRCh38
NC_000009.11:g.107568588G>A , CM000671.1:g.107568588G>A	GRCh37
NC_000009.10:g.106608409G>A	NCBI36
NG_007981.1:g.126849C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4398C>T MANE Select	ENSP00000363868.3:p.Ser1466=
ENST00000678995.1:c.4404C>T	ENSP00000504612.1:p.Ser1468=
ENST00000374736.7:c.4398C>T	ENSP00000363868.3:p.Ser1466=
NM_005502.3:c.4398C>T	NP_005493.2:p.Ser1466=
XM_005251773.1:c.4404C>T	XP_005251830.1:p.Ser1468=
XM_005251776.1:c.4224C>T	XP_005251833.1:p.Ser1408=
XM_011518339.1:c.4479C>T	XP_011516641.1:p.Ser1493=
XM_011518340.1:c.4479C>T	XP_011516642.1:p.Ser1493=
XM_011518341.1:c.4473C>T	XP_011516643.1:p.Ser1491=
XM_011518342.1:c.4041C>T	XP_011516644.1:p.Ser1347=
XM_011518343.1:c.4479C>T	XP_011516645.1:p.Ser1493=
XM_011518344.1:c.4479C>T	XP_011516646.1:p.Ser1493=
XM_005251773.3:c.4404C>T	XP_005251830.1:p.Ser1468=
XM_005251776.3:c.4224C>T	XP_005251833.1:p.Ser1408=
XM_011518339.3:c.4479C>T	XP_011516641.1:p.Ser1493=
XM_011518340.3:c.4479C>T	XP_011516642.1:p.Ser1493=
XM_011518341.3:c.4473C>T	XP_011516643.1:p.Ser1491=
XM_011518342.3:c.4041C>T	XP_011516644.1:p.Ser1347=
XM_011518344.2:c.4479C>T	XP_011516646.1:p.Ser1493=
XM_017014378.2:c.4479C>T	XP_016869867.1:p.Ser1493=
XM_017014379.2:c.4479C>T	XP_016869868.1:p.Ser1493=
XM_017014380.2:c.4479C>T	XP_016869869.1:p.Ser1493=
XM_017014381.2:c.4479C>T	XP_016869870.1:p.Ser1493=
XM_017014382.2:c.4341C>T	XP_016869871.1:p.Ser1447=
XR_001746223.1:n.4792C>T
NM_005502.4:c.4398C>T MANE Select	NP_005493.2:p.Ser1466=