Canonical Allele Identifier: CA374315520

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107568560C>A (hg19) ; chr9:g.104806279C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806279C>A , CM000671.2:g.104806279C>A	GRCh38
NC_000009.11:g.107568560C>A , CM000671.1:g.107568560C>A	GRCh37
NC_000009.10:g.106608381C>A	NCBI36
NG_007981.1:g.126877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4426G>T MANE Select	ENSP00000363868.3:p.Val1476Leu
ENST00000678995.1:c.4432G>T	ENSP00000504612.1:p.Val1478Leu
ENST00000374736.7:c.4426G>T	ENSP00000363868.3:p.Val1476Leu
NM_005502.3:c.4426G>T	NP_005493.2:p.Val1476Leu
XM_005251773.1:c.4432G>T	XP_005251830.1:p.Val1478Leu
XM_005251776.1:c.4252G>T	XP_005251833.1:p.Val1418Leu
XM_011518339.1:c.4507G>T	XP_011516641.1:p.Val1503Leu
XM_011518340.1:c.4507G>T	XP_011516642.1:p.Val1503Leu
XM_011518341.1:c.4501G>T	XP_011516643.1:p.Val1501Leu
XM_011518342.1:c.4069G>T	XP_011516644.1:p.Val1357Leu
XM_011518343.1:c.4507G>T	XP_011516645.1:p.Val1503Leu
XM_011518344.1:c.4507G>T	XP_011516646.1:p.Val1503Leu
XM_005251773.3:c.4432G>T	XP_005251830.1:p.Val1478Leu
XM_005251776.3:c.4252G>T	XP_005251833.1:p.Val1418Leu
XM_011518339.3:c.4507G>T	XP_011516641.1:p.Val1503Leu
XM_011518340.3:c.4507G>T	XP_011516642.1:p.Val1503Leu
XM_011518341.3:c.4501G>T	XP_011516643.1:p.Val1501Leu
XM_011518342.3:c.4069G>T	XP_011516644.1:p.Val1357Leu
XM_011518344.2:c.4507G>T	XP_011516646.1:p.Val1503Leu
XM_017014378.2:c.4507G>T	XP_016869867.1:p.Val1503Leu
XM_017014379.2:c.4507G>T	XP_016869868.1:p.Val1503Leu
XM_017014380.2:c.4507G>T	XP_016869869.1:p.Val1503Leu
XM_017014381.2:c.4507G>T	XP_016869870.1:p.Val1503Leu
XM_017014382.2:c.4369G>T	XP_016869871.1:p.Val1457Leu
XR_001746223.1:n.4820G>T
NM_005502.4:c.4426G>T MANE Select	NP_005493.2:p.Val1476Leu