Canonical Allele Identifier: CA1869925641

Gene: ABCA1

Linked Data

• dbSNP Id: rs1833339771

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104831671dup , CM000671.2:g.104831671dup	GRCh38
NC_000009.11:g.107593952dup , CM000671.1:g.107593952dup	GRCh37
NC_000009.10:g.106633773dup	NCBI36
NG_007981.1:g.101485dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1666dup MANE Select	ENSP00000363868.3:p.Ile556AsnfsTer6
ENST00000678995.1:c.1666dup	ENSP00000504612.1:p.Ile556AsnfsTer6
ENST00000374736.7:c.1666dup	ENSP00000363868.3:p.Ile556AsnfsTer6
NM_005502.3:c.1666dup	NP_005493.2:p.Ile556AsnfsTer6
XM_005251773.1:c.1666dup	XP_005251830.1:p.Ile556AsnfsTer6
XM_005251776.1:c.1486dup	XP_005251833.1:p.Ile496AsnfsTer6
XM_011518339.1:c.1741dup	XP_011516641.1:p.Ile581AsnfsTer6
XM_011518340.1:c.1741dup	XP_011516642.1:p.Ile581AsnfsTer6
XM_011518341.1:c.1741dup	XP_011516643.1:p.Ile581AsnfsTer6
XM_011518342.1:c.1303dup	XP_011516644.1:p.Ile435AsnfsTer6
XM_011518343.1:c.1741dup	XP_011516645.1:p.Ile581AsnfsTer6
XM_011518344.1:c.1741dup	XP_011516646.1:p.Ile581AsnfsTer6
XM_005251773.3:c.1666dup	XP_005251830.1:p.Ile556AsnfsTer6
XM_005251776.3:c.1486dup	XP_005251833.1:p.Ile496AsnfsTer6
XM_011518339.3:c.1741dup	XP_011516641.1:p.Ile581AsnfsTer6
XM_011518340.3:c.1741dup	XP_011516642.1:p.Ile581AsnfsTer6
XM_011518341.3:c.1741dup	XP_011516643.1:p.Ile581AsnfsTer6
XM_011518342.3:c.1303dup	XP_011516644.1:p.Ile435AsnfsTer6
XM_011518344.2:c.1741dup	XP_011516646.1:p.Ile581AsnfsTer6
XM_017014378.2:c.1741dup	XP_016869867.1:p.Ile581AsnfsTer6
XM_017014379.2:c.1741dup	XP_016869868.1:p.Ile581AsnfsTer6
XM_017014380.2:c.1741dup	XP_016869869.1:p.Ile581AsnfsTer6
XM_017014381.2:c.1741dup	XP_016869870.1:p.Ile581AsnfsTer6
XM_017014382.2:c.1603dup	XP_016869871.1:p.Ile535AsnfsTer6
XR_001746223.1:n.2054dup
NM_005502.4:c.1666dup MANE Select	NP_005493.2:p.Ile556AsnfsTer6