Canonical Allele Identifier: CA374309680

Gene: ABCA1

Linked Data

• ClinVar Variation Id: 2080200
• ClinVar RCV Id: RCV002999111
• MyVariant Identifiers: chr9:g.107553206T>C (hg19) ; chr9:g.104790925T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104790925T>C , CM000671.2:g.104790925T>C	GRCh38
NC_000009.11:g.107553206T>C , CM000671.1:g.107553206T>C	GRCh37
NC_000009.10:g.106593027T>C	NCBI36
NG_007981.1:g.142231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374736.8:c.5924A>G MANE Select	ENSP00000363868.3:p.Asn1975Ser
ENST00000678995.1:c.5930A>G	ENSP00000504612.1:p.Asn1977Ser
ENST00000374736.7:c.5924A>G	ENSP00000363868.3:p.Asn1975Ser
NM_005502.3:c.5924A>G	NP_005493.2:p.Asn1975Ser
XM_005251773.1:c.5930A>G	XP_005251830.1:p.Asn1977Ser
XM_005251776.1:c.5750A>G	XP_005251833.1:p.Asn1917Ser
XM_011518339.1:c.6005A>G	XP_011516641.1:p.Asn2002Ser
XM_011518340.1:c.6005A>G	XP_011516642.1:p.Asn2002Ser
XM_011518341.1:c.5999A>G	XP_011516643.1:p.Asn2000Ser
XM_011518342.1:c.5567A>G	XP_011516644.1:p.Asn1856Ser
XM_011518343.1:c.6005A>G	XP_011516645.1:p.Asn2002Ser
XM_005251773.3:c.5930A>G	XP_005251830.1:p.Asn1977Ser
XM_005251776.3:c.5750A>G	XP_005251833.1:p.Asn1917Ser
XM_011518339.3:c.6005A>G	XP_011516641.1:p.Asn2002Ser
XM_011518340.3:c.6005A>G	XP_011516642.1:p.Asn2002Ser
XM_011518341.3:c.5999A>G	XP_011516643.1:p.Asn2000Ser
XM_011518342.3:c.5567A>G	XP_011516644.1:p.Asn1856Ser
XM_017014378.2:c.6005A>G	XP_016869867.1:p.Asn2002Ser
XM_017014379.2:c.6005A>G	XP_016869868.1:p.Asn2002Ser
XM_017014380.2:c.6005A>G	XP_016869869.1:p.Asn2002Ser
XM_017014381.2:c.6005A>G	XP_016869870.1:p.Asn2002Ser
XM_017014382.2:c.5867A>G	XP_016869871.1:p.Asn1956Ser
XR_001746223.1:n.6318A>G
NM_005502.4:c.5924A>G MANE Select	NP_005493.2:p.Asn1975Ser