Canonical Allele Identifier: CA402980055

Gene: ABCA7

Linked Data

• MyVariant Identifiers: chr19:g.1058187A>G (hg19) ; chr19:g.1058188A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1058188A>G , CM000681.2:g.1058188A>G	GRCh38
NC_000019.9:g.1058187A>G , CM000681.1:g.1058187A>G	GRCh37
NC_000019.8:g.1009187A>G	NCBI36
NG_046909.1:g.23086A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.5068A>G MANE Select	ENSP00000263094.6:p.Ile1690Val
ENST00000433129.6:n.5368A>G
ENST00000435683.7:c.2782A>G	ENSP00000465322.2:n.2782A>G
ENST00000529442.7:c.316A>G
ENST00000532194.3:n.103A>G
ENST00000673773.1:n.1711A>G
ENST00000263094.10:c.5068A>G	ENSP00000263094.6:p.Ile1690Val
ENST00000433129.5:c.5068A>G	ENSP00000414062.1:p.Ile1690Val
ENST00000435683.6:c.4654A>G	ENSP00000465322.1:p.Ile1552Val
ENST00000525073.6:c.401A>G
ENST00000529442.6:c.316A>G
ENST00000532194.2:n.578A>G
NM_019112.3:c.5068A>G	NP_061985.2:p.Ile1690Val
XM_006722616.1:c.5014A>G	XP_006722679.1:p.Ile1672Val
XM_006722618.2:c.2725A>G	XP_006722681.1:p.Ile909Val
XM_011527628.1:c.5068A>G	XP_011525930.1:p.Ile1690Val
XM_011527629.1:c.5041A>G	XP_011525931.1:p.Ile1681Val
XM_011527630.1:c.4939A>G	XP_011525932.1:p.Ile1647Val
XM_011527631.1:c.4703-430A>G	XP_011525933.1:n.4703-430A>G
XM_011527632.1:c.4612A>G	XP_011525934.1:p.Ile1538Val
XM_011527633.1:c.*27A>G	XP_011525935.1:n.*27A>G
XM_011527636.1:c.2725A>G	XP_011525938.1:p.Ile909Val
XR_936148.1:n.5286A>G
XR_936149.1:n.5255+31A>G
XR_936150.1:n.5099-430A>G
XR_936151.1:n.5108A>G
XR_936152.1:n.5077+31A>G
XR_936153.1:n.4963A>G
XR_936154.1:n.5054A>G
XM_011527633.2:c.*27A>G	XP_011525935.1:n.*27A>G
XM_017026143.1:c.*77A>G	XP_016881632.1:n.*77A>G
XM_024451315.1:c.5068A>G	XP_024307083.1:p.Ile1690Val
XM_024451316.1:c.5068A>G	XP_024307084.1:p.Ile1690Val
XM_024451317.1:c.5041A>G	XP_024307085.1:p.Ile1681Val
XM_024451318.1:c.5014A>G	XP_024307086.1:p.Ile1672Val
XM_024451319.1:c.4939A>G	XP_024307087.1:p.Ile1647Val
XM_024451320.1:c.4813A>G	XP_024307088.1:p.Ile1605Val
XM_024451321.1:c.4703-430A>G	XP_024307089.1:n.4703-430A>G
XM_024451322.1:c.4612A>G	XP_024307090.1:p.Ile1538Val
XM_024451323.1:c.5068A>G	XP_024307091.1:p.Ile1690Val
XM_024451324.1:c.2725A>G	XP_024307092.1:p.Ile909Val
XM_024451325.1:c.2725A>G	XP_024307093.1:p.Ile909Val
XR_001753585.1:n.5099-430A>G
XR_001753586.1:n.5108A>G
XR_002958240.1:n.5255+31A>G
XR_002958241.1:n.5099-430A>G
XR_002958242.1:n.4816+31A>G
NM_019112.4:c.5068A>G MANE Select	NP_061985.2:p.Ile1690Val