Canonical Allele Identifier: CA374309681

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107553207T>A (hg19) ; chr9:g.104790926T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790926T>A , CM000671.2:g.104790926T>A	GRCh38
NC_000009.11:g.107553207T>A , CM000671.1:g.107553207T>A	GRCh37
NC_000009.10:g.106593028T>A	NCBI36
NG_007981.1:g.142230A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5923A>T MANE Select	ENSP00000363868.3:p.Asn1975Tyr
ENST00000678995.1:c.5929A>T	ENSP00000504612.1:p.Asn1977Tyr
ENST00000374736.7:c.5923A>T	ENSP00000363868.3:p.Asn1975Tyr
NM_005502.3:c.5923A>T	NP_005493.2:p.Asn1975Tyr
XM_005251773.1:c.5929A>T	XP_005251830.1:p.Asn1977Tyr
XM_005251776.1:c.5749A>T	XP_005251833.1:p.Asn1917Tyr
XM_011518339.1:c.6004A>T	XP_011516641.1:p.Asn2002Tyr
XM_011518340.1:c.6004A>T	XP_011516642.1:p.Asn2002Tyr
XM_011518341.1:c.5998A>T	XP_011516643.1:p.Asn2000Tyr
XM_011518342.1:c.5566A>T	XP_011516644.1:p.Asn1856Tyr
XM_011518343.1:c.6004A>T	XP_011516645.1:p.Asn2002Tyr
XM_005251773.3:c.5929A>T	XP_005251830.1:p.Asn1977Tyr
XM_005251776.3:c.5749A>T	XP_005251833.1:p.Asn1917Tyr
XM_011518339.3:c.6004A>T	XP_011516641.1:p.Asn2002Tyr
XM_011518340.3:c.6004A>T	XP_011516642.1:p.Asn2002Tyr
XM_011518341.3:c.5998A>T	XP_011516643.1:p.Asn2000Tyr
XM_011518342.3:c.5566A>T	XP_011516644.1:p.Asn1856Tyr
XM_017014378.2:c.6004A>T	XP_016869867.1:p.Asn2002Tyr
XM_017014379.2:c.6004A>T	XP_016869868.1:p.Asn2002Tyr
XM_017014380.2:c.6004A>T	XP_016869869.1:p.Asn2002Tyr
XM_017014381.2:c.6004A>T	XP_016869870.1:p.Asn2002Tyr
XM_017014382.2:c.5866A>T	XP_016869871.1:p.Asn1956Tyr
XR_001746223.1:n.6317A>T
NM_005502.4:c.5923A>T MANE Select	NP_005493.2:p.Asn1975Tyr