Canonical Allele Identifier: CA374314286

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104798594-T-C
• MyVariant Identifiers: chr9:g.107560875T>C (hg19) ; chr9:g.104798594T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104798594T>C , CM000671.2:g.104798594T>C	GRCh38
NC_000009.11:g.107560875T>C , CM000671.1:g.107560875T>C	GRCh37
NC_000009.10:g.106600696T>C	NCBI36
NG_007981.1:g.134562A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4948A>G MANE Select	ENSP00000363868.3:p.Thr1650Ala
ENST00000678995.1:c.4954A>G	ENSP00000504612.1:p.Thr1652Ala
ENST00000374736.7:c.4948A>G	ENSP00000363868.3:p.Thr1650Ala
NM_005502.3:c.4948A>G	NP_005493.2:p.Thr1650Ala
XM_005251773.1:c.4954A>G	XP_005251830.1:p.Thr1652Ala
XM_005251776.1:c.4774A>G	XP_005251833.1:p.Thr1592Ala
XM_011518339.1:c.5029A>G	XP_011516641.1:p.Thr1677Ala
XM_011518340.1:c.5029A>G	XP_011516642.1:p.Thr1677Ala
XM_011518341.1:c.5023A>G	XP_011516643.1:p.Thr1675Ala
XM_011518342.1:c.4591A>G	XP_011516644.1:p.Thr1531Ala
XM_011518343.1:c.5029A>G	XP_011516645.1:p.Thr1677Ala
XM_005251773.3:c.4954A>G	XP_005251830.1:p.Thr1652Ala
XM_005251776.3:c.4774A>G	XP_005251833.1:p.Thr1592Ala
XM_011518339.3:c.5029A>G	XP_011516641.1:p.Thr1677Ala
XM_011518340.3:c.5029A>G	XP_011516642.1:p.Thr1677Ala
XM_011518341.3:c.5023A>G	XP_011516643.1:p.Thr1675Ala
XM_011518342.3:c.4591A>G	XP_011516644.1:p.Thr1531Ala
XM_017014378.2:c.5029A>G	XP_016869867.1:p.Thr1677Ala
XM_017014379.2:c.5029A>G	XP_016869868.1:p.Thr1677Ala
XM_017014380.2:c.5029A>G	XP_016869869.1:p.Thr1677Ala
XM_017014381.2:c.5029A>G	XP_016869870.1:p.Thr1677Ala
XM_017014382.2:c.4891A>G	XP_016869871.1:p.Thr1631Ala
XR_001746223.1:n.5342A>G
NM_005502.4:c.4948A>G MANE Select	NP_005493.2:p.Thr1650Ala