Canonical Allele Identifier: CA374309701

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107553210T>G (hg19) ; chr9:g.104790929T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790929T>G , CM000671.2:g.104790929T>G	GRCh38
NC_000009.11:g.107553210T>G , CM000671.1:g.107553210T>G	GRCh37
NC_000009.10:g.106593031T>G	NCBI36
NG_007981.1:g.142227A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5920A>C MANE Select	ENSP00000363868.3:p.Lys1974Gln
ENST00000678995.1:c.5926A>C	ENSP00000504612.1:p.Lys1976Gln
ENST00000374736.7:c.5920A>C	ENSP00000363868.3:p.Lys1974Gln
NM_005502.3:c.5920A>C	NP_005493.2:p.Lys1974Gln
XM_005251773.1:c.5926A>C	XP_005251830.1:p.Lys1976Gln
XM_005251776.1:c.5746A>C	XP_005251833.1:p.Lys1916Gln
XM_011518339.1:c.6001A>C	XP_011516641.1:p.Lys2001Gln
XM_011518340.1:c.6001A>C	XP_011516642.1:p.Lys2001Gln
XM_011518341.1:c.5995A>C	XP_011516643.1:p.Lys1999Gln
XM_011518342.1:c.5563A>C	XP_011516644.1:p.Lys1855Gln
XM_011518343.1:c.6001A>C	XP_011516645.1:p.Lys2001Gln
XM_005251773.3:c.5926A>C	XP_005251830.1:p.Lys1976Gln
XM_005251776.3:c.5746A>C	XP_005251833.1:p.Lys1916Gln
XM_011518339.3:c.6001A>C	XP_011516641.1:p.Lys2001Gln
XM_011518340.3:c.6001A>C	XP_011516642.1:p.Lys2001Gln
XM_011518341.3:c.5995A>C	XP_011516643.1:p.Lys1999Gln
XM_011518342.3:c.5563A>C	XP_011516644.1:p.Lys1855Gln
XM_017014378.2:c.6001A>C	XP_016869867.1:p.Lys2001Gln
XM_017014379.2:c.6001A>C	XP_016869868.1:p.Lys2001Gln
XM_017014380.2:c.6001A>C	XP_016869869.1:p.Lys2001Gln
XM_017014381.2:c.6001A>C	XP_016869870.1:p.Lys2001Gln
XM_017014382.2:c.5863A>C	XP_016869871.1:p.Lys1955Gln
XR_001746223.1:n.6314A>C
NM_005502.4:c.5920A>C MANE Select	NP_005493.2:p.Lys1974Gln