Canonical Allele Identifier: CA504698618

Gene: ABCA7

Linked Data

• MyVariant Identifiers: chr19:g.1058186T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1058187T>A , CM000681.2:g.1058187T>A	GRCh38
NC_000019.9:g.1058186T>A , CM000681.1:g.1058186T>A	GRCh37
NC_000019.8:g.1009186T>A	NCBI36
NG_046909.1:g.23085T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263094.11:c.5067T>A MANE Select	ENSP00000263094.6:p.Leu1689=
ENST00000433129.6:n.5367T>A
ENST00000435683.7:c.2781T>A	ENSP00000465322.2:n.2781T>A
ENST00000529442.7:c.315T>A
ENST00000532194.3:n.102T>A
ENST00000673773.1:n.1710T>A
ENST00000263094.10:c.5067T>A	ENSP00000263094.6:p.Leu1689=
ENST00000433129.5:c.5067T>A	ENSP00000414062.1:p.Leu1689=
ENST00000435683.6:c.4653T>A	ENSP00000465322.1:p.Leu1551=
ENST00000525073.6:c.400T>A
ENST00000529442.6:c.315T>A
ENST00000532194.2:n.577T>A
NM_019112.3:c.5067T>A	NP_061985.2:p.Leu1689=
XM_006722616.1:c.5013T>A	XP_006722679.1:p.Leu1671=
XM_006722618.2:c.2724T>A	XP_006722681.1:p.Leu908=
XM_011527628.1:c.5067T>A	XP_011525930.1:p.Leu1689=
XM_011527629.1:c.5040T>A	XP_011525931.1:p.Leu1680=
XM_011527630.1:c.4938T>A	XP_011525932.1:p.Leu1646=
XM_011527631.1:c.4703-431T>A	XP_011525933.1:n.4703-431T>A
XM_011527632.1:c.4611T>A	XP_011525934.1:p.Leu1537=
XM_011527633.1:c.*26T>A	XP_011525935.1:n.*26T>A
XM_011527636.1:c.2724T>A	XP_011525938.1:p.Leu908=
XR_936148.1:n.5285T>A
XR_936149.1:n.5255+30T>A
XR_936150.1:n.5099-431T>A
XR_936151.1:n.5107T>A
XR_936152.1:n.5077+30T>A
XR_936153.1:n.4962T>A
XR_936154.1:n.5053T>A
XM_011527633.2:c.*26T>A	XP_011525935.1:n.*26T>A
XM_017026143.1:c.*76T>A	XP_016881632.1:n.*76T>A
XM_024451315.1:c.5067T>A	XP_024307083.1:p.Leu1689=
XM_024451316.1:c.5067T>A	XP_024307084.1:p.Leu1689=
XM_024451317.1:c.5040T>A	XP_024307085.1:p.Leu1680=
XM_024451318.1:c.5013T>A	XP_024307086.1:p.Leu1671=
XM_024451319.1:c.4938T>A	XP_024307087.1:p.Leu1646=
XM_024451320.1:c.4812T>A	XP_024307088.1:p.Leu1604=
XM_024451321.1:c.4703-431T>A	XP_024307089.1:n.4703-431T>A
XM_024451322.1:c.4611T>A	XP_024307090.1:p.Leu1537=
XM_024451323.1:c.5067T>A	XP_024307091.1:p.Leu1689=
XM_024451324.1:c.2724T>A	XP_024307092.1:p.Leu908=
XM_024451325.1:c.2724T>A	XP_024307093.1:p.Leu908=
XR_001753585.1:n.5099-431T>A
XR_001753586.1:n.5107T>A
XR_002958240.1:n.5255+30T>A
XR_002958241.1:n.5099-431T>A
XR_002958242.1:n.4816+30T>A
NM_019112.4:c.5067T>A MANE Select	NP_061985.2:p.Leu1689=