Canonical Allele Identifier: CA374315636

Gene: ABCA1

Linked Data

• MyVariant Identifiers: chr9:g.107568611G>C (hg19) ; chr9:g.104806330G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104806330G>C , CM000671.2:g.104806330G>C	GRCh38
NC_000009.11:g.107568611G>C , CM000671.1:g.107568611G>C	GRCh37
NC_000009.10:g.106608432G>C	NCBI36
NG_007981.1:g.126826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.4375C>G MANE Select	ENSP00000363868.3:p.Pro1459Ala
ENST00000678995.1:c.4381C>G	ENSP00000504612.1:p.Pro1461Ala
ENST00000374736.7:c.4375C>G	ENSP00000363868.3:p.Pro1459Ala
NM_005502.3:c.4375C>G	NP_005493.2:p.Pro1459Ala
XM_005251773.1:c.4381C>G	XP_005251830.1:p.Pro1461Ala
XM_005251776.1:c.4201C>G	XP_005251833.1:p.Pro1401Ala
XM_011518339.1:c.4456C>G	XP_011516641.1:p.Pro1486Ala
XM_011518340.1:c.4456C>G	XP_011516642.1:p.Pro1486Ala
XM_011518341.1:c.4450C>G	XP_011516643.1:p.Pro1484Ala
XM_011518342.1:c.4018C>G	XP_011516644.1:p.Pro1340Ala
XM_011518343.1:c.4456C>G	XP_011516645.1:p.Pro1486Ala
XM_011518344.1:c.4456C>G	XP_011516646.1:p.Pro1486Ala
XM_005251773.3:c.4381C>G	XP_005251830.1:p.Pro1461Ala
XM_005251776.3:c.4201C>G	XP_005251833.1:p.Pro1401Ala
XM_011518339.3:c.4456C>G	XP_011516641.1:p.Pro1486Ala
XM_011518340.3:c.4456C>G	XP_011516642.1:p.Pro1486Ala
XM_011518341.3:c.4450C>G	XP_011516643.1:p.Pro1484Ala
XM_011518342.3:c.4018C>G	XP_011516644.1:p.Pro1340Ala
XM_011518344.2:c.4456C>G	XP_011516646.1:p.Pro1486Ala
XM_017014378.2:c.4456C>G	XP_016869867.1:p.Pro1486Ala
XM_017014379.2:c.4456C>G	XP_016869868.1:p.Pro1486Ala
XM_017014380.2:c.4456C>G	XP_016869869.1:p.Pro1486Ala
XM_017014381.2:c.4456C>G	XP_016869870.1:p.Pro1486Ala
XM_017014382.2:c.4318C>G	XP_016869871.1:p.Pro1440Ala
XR_001746223.1:n.4769C>G
NM_005502.4:c.4375C>G MANE Select	NP_005493.2:p.Pro1459Ala