Canonical Allele Identifier: CA5169343

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104858691A>G , CM000671.2:g.104858691A>G	GRCh38
NC_000009.11:g.107620972A>G , CM000671.1:g.107620972A>G	GRCh37
NC_000009.10:g.106660793A>G	NCBI36
NG_007981.1:g.74465T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.551T>C MANE Select	NP_005493.2:p.Leu184Ser
ENST00000374736.8:c.551T>C MANE Select	ENSP00000363868.3:p.Leu184Ser
NM_005502.3:c.551T>C	NP_005493.2:p.Leu184Ser
ENST00000374736.7:c.551T>C	ENSP00000363868.3:p.Leu184Ser
ENST00000423487.6:c.551T>C	ENSP00000416623.2:p.Leu184Ser
ENST00000678995.1:c.551T>C	ENSP00000504612.1:p.Leu184Ser
XM_005251773.1:c.551T>C	XP_005251830.1:p.Leu184Ser
XM_005251773.3:c.551T>C	XP_005251830.1:p.Leu184Ser
XM_005251776.1:c.371T>C	XP_005251833.1:p.Leu124Ser
XM_005251776.3:c.371T>C	XP_005251833.1:p.Leu124Ser
XM_011518339.1:c.626T>C	XP_011516641.1:p.Leu209Ser
XM_011518339.3:c.626T>C	XP_011516641.1:p.Leu209Ser
XM_011518340.1:c.626T>C	XP_011516642.1:p.Leu209Ser
XM_011518340.3:c.626T>C	XP_011516642.1:p.Leu209Ser
XM_011518341.1:c.626T>C	XP_011516643.1:p.Leu209Ser
XM_011518341.3:c.626T>C	XP_011516643.1:p.Leu209Ser
XM_011518342.1:c.188T>C	XP_011516644.1:p.Leu63Ser
XM_011518342.3:c.188T>C	XP_011516644.1:p.Leu63Ser
XM_011518343.1:c.626T>C	XP_011516645.1:p.Leu209Ser
XM_011518344.1:c.626T>C	XP_011516646.1:p.Leu209Ser
XM_011518344.2:c.626T>C	XP_011516646.1:p.Leu209Ser
XM_017014378.2:c.626T>C	XP_016869867.1:p.Leu209Ser
XM_017014379.2:c.626T>C	XP_016869868.1:p.Leu209Ser
XM_017014380.2:c.626T>C	XP_016869869.1:p.Leu209Ser
XM_017014381.2:c.626T>C	XP_016869870.1:p.Leu209Ser
XM_017014382.2:c.488T>C	XP_016869871.1:p.Leu163Ser
XR_001746223.1:n.939T>C