Canonical Allele Identifier: CA374322771

Gene: ABCA1

Linked Data

• gnomAD v4: 9-104830953-T-C
• MyVariant Identifiers: chr9:g.107593234T>C (hg19) ; chr9:g.104830953T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.104830953T>C , CM000671.2:g.104830953T>C	GRCh38
NC_000009.11:g.107593234T>C , CM000671.1:g.107593234T>C	GRCh37
NC_000009.10:g.106633055T>C	NCBI36
NG_007981.1:g.102203A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374736.8:c.1864A>G MANE Select	ENSP00000363868.3:p.Met622Val
ENST00000678995.1:c.1864A>G	ENSP00000504612.1:p.Met622Val
ENST00000374736.7:c.1864A>G	ENSP00000363868.3:p.Met622Val
ENST00000494467.1:n.37A>G
NM_005502.3:c.1864A>G	NP_005493.2:p.Met622Val
XM_005251773.1:c.1864A>G	XP_005251830.1:p.Met622Val
XM_005251776.1:c.1684A>G	XP_005251833.1:p.Met562Val
XM_011518339.1:c.1939A>G	XP_011516641.1:p.Met647Val
XM_011518340.1:c.1939A>G	XP_011516642.1:p.Met647Val
XM_011518341.1:c.1939A>G	XP_011516643.1:p.Met647Val
XM_011518342.1:c.1501A>G	XP_011516644.1:p.Met501Val
XM_011518343.1:c.1939A>G	XP_011516645.1:p.Met647Val
XM_011518344.1:c.1939A>G	XP_011516646.1:p.Met647Val
XM_005251773.3:c.1864A>G	XP_005251830.1:p.Met622Val
XM_005251776.3:c.1684A>G	XP_005251833.1:p.Met562Val
XM_011518339.3:c.1939A>G	XP_011516641.1:p.Met647Val
XM_011518340.3:c.1939A>G	XP_011516642.1:p.Met647Val
XM_011518341.3:c.1939A>G	XP_011516643.1:p.Met647Val
XM_011518342.3:c.1501A>G	XP_011516644.1:p.Met501Val
XM_011518344.2:c.1939A>G	XP_011516646.1:p.Met647Val
XM_017014378.2:c.1939A>G	XP_016869867.1:p.Met647Val
XM_017014379.2:c.1939A>G	XP_016869868.1:p.Met647Val
XM_017014380.2:c.1939A>G	XP_016869869.1:p.Met647Val
XM_017014381.2:c.1939A>G	XP_016869870.1:p.Met647Val
XM_017014382.2:c.1801A>G	XP_016869871.1:p.Met601Val
XR_001746223.1:n.2252A>G
NM_005502.4:c.1864A>G MANE Select	NP_005493.2:p.Met622Val