Canonical Allele Identifier: CA5168027

Gene: ABCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104800519A>G , CM000671.2:g.104800519A>G	GRCh38
NC_000009.11:g.107562800A>G , CM000671.1:g.107562800A>G	GRCh37
NC_000009.10:g.106602621A>G	NCBI36
NG_007981.1:g.132637T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005502.4:c.4764T>C MANE Select	NP_005493.2:p.Asn1588=
ENST00000374736.8:c.4764T>C MANE Select	ENSP00000363868.3:p.Asn1588=
NM_005502.3:c.4764T>C	NP_005493.2:p.Asn1588=
ENST00000374736.7:c.4764T>C	ENSP00000363868.3:p.Asn1588=
ENST00000678995.1:c.4770T>C	ENSP00000504612.1:p.Asn1590=
XM_005251773.1:c.4770T>C	XP_005251830.1:p.Asn1590=
XM_005251773.3:c.4770T>C	XP_005251830.1:p.Asn1590=
XM_005251776.1:c.4590T>C	XP_005251833.1:p.Asn1530=
XM_005251776.3:c.4590T>C	XP_005251833.1:p.Asn1530=
XM_011518339.1:c.4845T>C	XP_011516641.1:p.Asn1615=
XM_011518339.3:c.4845T>C	XP_011516641.1:p.Asn1615=
XM_011518340.1:c.4845T>C	XP_011516642.1:p.Asn1615=
XM_011518340.3:c.4845T>C	XP_011516642.1:p.Asn1615=
XM_011518341.1:c.4839T>C	XP_011516643.1:p.Asn1613=
XM_011518341.3:c.4839T>C	XP_011516643.1:p.Asn1613=
XM_011518342.1:c.4407T>C	XP_011516644.1:p.Asn1469=
XM_011518342.3:c.4407T>C	XP_011516644.1:p.Asn1469=
XM_011518343.1:c.4845T>C	XP_011516645.1:p.Asn1615=
XM_017014378.2:c.4845T>C	XP_016869867.1:p.Asn1615=
XM_017014379.2:c.4845T>C	XP_016869868.1:p.Asn1615=
XM_017014380.2:c.4845T>C	XP_016869869.1:p.Asn1615=
XM_017014381.2:c.4845T>C	XP_016869870.1:p.Asn1615=
XM_017014382.2:c.4707T>C	XP_016869871.1:p.Asn1569=
XR_001746223.1:n.5158T>C