Canonical Allele Identifier: CA2317490436
Community Standard Title: NM_019112.4(ABCA7):c.5057A= (p.Gln1686=)
Gene: ABCA7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1058177A= , CM000681.2:g.1058177A= GRCh38
NC_000019.9:g.1058176A= , CM000681.1:g.1058176A= GRCh37
NC_000019.8:g.1009176A= NCBI36
NG_046909.1:g.23075A=

Transcript Alleles

HGVS Amino-acid Change
NM_019112.4:c.5057A= MANE Select NP_061985.2:p.Gln1686=
ENST00000263094.11:c.5057A= MANE Select ENSP00000263094.6:p.Gln1686=
NM_019112.3:c.5057A= NP_061985.2:p.Gln1686=
ENST00000263094.10:c.5057A= ENSP00000263094.6:p.Gln1686=
ENST00000433129.5:c.5057A= ENSP00000414062.1:p.Gln1686=
ENST00000433129.6:n.5357A=
ENST00000435683.6:c.4643A= ENSP00000465322.1:p.Gln1548=
ENST00000435683.7:c.2771A= ENSP00000465322.2:n.2771A=
ENST00000525073.6:c.390A=
ENST00000529442.6:c.305A=
ENST00000529442.7:c.305A=
ENST00000532194.2:n.567A=
ENST00000532194.3:n.92A=
ENST00000673773.1:n.1700A=
XM_006722616.1:c.5003A= XP_006722679.1:p.Gln1668=
XM_006722618.2:c.2714A= XP_006722681.1:p.Gln905=
XM_011527628.1:c.5057A= XP_011525930.1:p.Gln1686=
XM_011527629.1:c.5030A= XP_011525931.1:p.Gln1677=
XM_011527630.1:c.4928A= XP_011525932.1:p.Gln1643=
XM_011527631.1:c.4703-441A= XP_011525933.1:n.4703-441A=
XM_011527632.1:c.4601A= XP_011525934.1:p.Gln1534=
XM_011527633.1:c.*16A= XP_011525935.1:n.*16A=
XM_011527633.2:c.*16A= XP_011525935.1:n.*16A=
XM_011527636.1:c.2714A= XP_011525938.1:p.Gln905=
XM_017026143.1:c.*66A= XP_016881632.1:n.*66A=
XM_024451315.1:c.5057A= XP_024307083.1:p.Gln1686=
XM_024451316.1:c.5057A= XP_024307084.1:p.Gln1686=
XM_024451317.1:c.5030A= XP_024307085.1:p.Gln1677=
XM_024451318.1:c.5003A= XP_024307086.1:p.Gln1668=
XM_024451319.1:c.4928A= XP_024307087.1:p.Gln1643=
XM_024451320.1:c.4802A= XP_024307088.1:p.Gln1601=
XM_024451321.1:c.4703-441A= XP_024307089.1:n.4703-441A=
XM_024451322.1:c.4601A= XP_024307090.1:p.Gln1534=
XM_024451323.1:c.5057A= XP_024307091.1:p.Gln1686=
XM_024451324.1:c.2714A= XP_024307092.1:p.Gln905=
XM_024451325.1:c.2714A= XP_024307093.1:p.Gln905=
XR_001753585.1:n.5099-441A=
XR_001753586.1:n.5097A=
XR_002958240.1:n.5255+20A=
XR_002958241.1:n.5099-441A=
XR_002958242.1:n.4816+20A=
XR_936148.1:n.5275A=
XR_936149.1:n.5255+20A=
XR_936150.1:n.5099-441A=
XR_936151.1:n.5097A=
XR_936152.1:n.5077+20A=
XR_936153.1:n.4952A=
XR_936154.1:n.5043A=