Canonical Allele Identifier: CA5167919

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104796354G>C , CM000671.2:g.104796354G>C	GRCh38
NC_000009.11:g.107558635G>C , CM000671.1:g.107558635G>C	GRCh37
NC_000009.10:g.106598456G>C	NCBI36
NG_007981.1:g.136802C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.5192C>G MANE Select	NP_005493.2:p.Ser1731Cys
ENST00000374736.8:c.5192C>G MANE Select	ENSP00000363868.3:p.Ser1731Cys
NM_005502.3:c.5192C>G	NP_005493.2:p.Ser1731Cys
ENST00000374736.7:c.5192C>G	ENSP00000363868.3:p.Ser1731Cys
ENST00000678995.1:c.5198C>G	ENSP00000504612.1:p.Ser1733Cys
XM_005251773.1:c.5198C>G	XP_005251830.1:p.Ser1733Cys
XM_005251773.3:c.5198C>G	XP_005251830.1:p.Ser1733Cys
XM_005251776.1:c.5018C>G	XP_005251833.1:p.Ser1673Cys
XM_005251776.3:c.5018C>G	XP_005251833.1:p.Ser1673Cys
XM_011518339.1:c.5273C>G	XP_011516641.1:p.Ser1758Cys
XM_011518339.3:c.5273C>G	XP_011516641.1:p.Ser1758Cys
XM_011518340.1:c.5273C>G	XP_011516642.1:p.Ser1758Cys
XM_011518340.3:c.5273C>G	XP_011516642.1:p.Ser1758Cys
XM_011518341.1:c.5267C>G	XP_011516643.1:p.Ser1756Cys
XM_011518341.3:c.5267C>G	XP_011516643.1:p.Ser1756Cys
XM_011518342.1:c.4835C>G	XP_011516644.1:p.Ser1612Cys
XM_011518342.3:c.4835C>G	XP_011516644.1:p.Ser1612Cys
XM_011518343.1:c.5273C>G	XP_011516645.1:p.Ser1758Cys
XM_017014378.2:c.5273C>G	XP_016869867.1:p.Ser1758Cys
XM_017014379.2:c.5273C>G	XP_016869868.1:p.Ser1758Cys
XM_017014380.2:c.5273C>G	XP_016869869.1:p.Ser1758Cys
XM_017014381.2:c.5273C>G	XP_016869870.1:p.Ser1758Cys
XM_017014382.2:c.5135C>G	XP_016869871.1:p.Ser1712Cys
XR_001746223.1:n.5586C>G