Canonical Allele Identifier: CA374318699

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107581023A>C (hg19) ; chr9:g.104818742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104818742A>C , CM000671.2:g.104818742A>C	GRCh38
NC_000009.11:g.107581023A>C , CM000671.1:g.107581023A>C	GRCh37
NC_000009.10:g.106620844A>C	NCBI36
NG_007981.1:g.114414T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.3383T>G MANE Select	ENSP00000363868.3:p.Leu1128Arg
ENST00000678995.1:c.3383T>G	ENSP00000504612.1:p.Leu1128Arg
ENST00000374736.7:c.3383T>G	ENSP00000363868.3:p.Leu1128Arg
NM_005502.3:c.3383T>G	NP_005493.2:p.Leu1128Arg
XM_005251773.1:c.3383T>G	XP_005251830.1:p.Leu1128Arg
XM_005251776.1:c.3203T>G	XP_005251833.1:p.Leu1068Arg
XM_011518339.1:c.3458T>G	XP_011516641.1:p.Leu1153Arg
XM_011518340.1:c.3458T>G	XP_011516642.1:p.Leu1153Arg
XM_011518341.1:c.3458T>G	XP_011516643.1:p.Leu1153Arg
XM_011518342.1:c.3020T>G	XP_011516644.1:p.Leu1007Arg
XM_011518343.1:c.3458T>G	XP_011516645.1:p.Leu1153Arg
XM_011518344.1:c.3458T>G	XP_011516646.1:p.Leu1153Arg
XM_005251773.3:c.3383T>G	XP_005251830.1:p.Leu1128Arg
XM_005251776.3:c.3203T>G	XP_005251833.1:p.Leu1068Arg
XM_011518339.3:c.3458T>G	XP_011516641.1:p.Leu1153Arg
XM_011518340.3:c.3458T>G	XP_011516642.1:p.Leu1153Arg
XM_011518341.3:c.3458T>G	XP_011516643.1:p.Leu1153Arg
XM_011518342.3:c.3020T>G	XP_011516644.1:p.Leu1007Arg
XM_011518344.2:c.3458T>G	XP_011516646.1:p.Leu1153Arg
XM_017014378.2:c.3458T>G	XP_016869867.1:p.Leu1153Arg
XM_017014379.2:c.3458T>G	XP_016869868.1:p.Leu1153Arg
XM_017014380.2:c.3458T>G	XP_016869869.1:p.Leu1153Arg
XM_017014381.2:c.3458T>G	XP_016869870.1:p.Leu1153Arg
XM_017014382.2:c.3320T>G	XP_016869871.1:p.Leu1107Arg
XR_001746223.1:n.3771T>G
NM_005502.4:c.3383T>G MANE Select	NP_005493.2:p.Leu1128Arg