Canonical Allele Identifier: CA374316347

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107646764G>C (hg19) ; chr9:g.104884483G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104884483G>C , CM000671.2:g.104884483G>C	GRCh38
NC_000009.11:g.107646764G>C , CM000671.1:g.107646764G>C	GRCh37
NC_000009.10:g.106686585G>C	NCBI36
NG_007981.1:g.48673C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.246C>G MANE Select	ENSP00000363868.3:p.Phe82Leu
ENST00000678995.1:c.246C>G	ENSP00000504612.1:p.Phe82Leu
ENST00000374733.1:c.66C>G	ENSP00000363865.1:p.Phe22Leu
ENST00000374736.7:c.246C>G	ENSP00000363868.3:p.Phe82Leu
ENST00000423487.6:c.246C>G	ENSP00000416623.2:p.Phe82Leu
NM_005502.3:c.246C>G	NP_005493.2:p.Phe82Leu
XM_005251773.1:c.246C>G	XP_005251830.1:p.Phe82Leu
XM_005251776.1:c.66C>G	XP_005251833.1:p.Phe22Leu
XM_011518339.1:c.321C>G	XP_011516641.1:p.Phe107Leu
XM_011518340.1:c.321C>G	XP_011516642.1:p.Phe107Leu
XM_011518341.1:c.321C>G	XP_011516643.1:p.Phe107Leu
XM_011518342.1:c.-61-1326C>G	XP_011516644.1:n.-61-1326C>G
XM_011518343.1:c.321C>G	XP_011516645.1:p.Phe107Leu
XM_011518344.1:c.321C>G	XP_011516646.1:p.Phe107Leu
XM_005251773.3:c.246C>G	XP_005251830.1:p.Phe82Leu
XM_005251776.3:c.66C>G	XP_005251833.1:p.Phe22Leu
XM_011518339.3:c.321C>G	XP_011516641.1:p.Phe107Leu
XM_011518340.3:c.321C>G	XP_011516642.1:p.Phe107Leu
XM_011518341.3:c.321C>G	XP_011516643.1:p.Phe107Leu
XM_011518342.3:c.-61-1326C>G	XP_011516644.1:n.-61-1326C>G
XM_011518344.2:c.321C>G	XP_011516646.1:p.Phe107Leu
XM_017014378.2:c.321C>G	XP_016869867.1:p.Phe107Leu
XM_017014379.2:c.321C>G	XP_016869868.1:p.Phe107Leu
XM_017014380.2:c.321C>G	XP_016869869.1:p.Phe107Leu
XM_017014381.2:c.321C>G	XP_016869870.1:p.Phe107Leu
XM_017014382.2:c.183C>G	XP_016869871.1:p.Phe61Leu
XR_001746223.1:n.634C>G
NM_005502.4:c.246C>G MANE Select	NP_005493.2:p.Phe82Leu