Canonical Allele Identifier: CA402953722

Gene: ABCA7

Linked Data

• gnomAD v4: 19-1047601-T-C
• MyVariant Identifiers: chr19:g.1047600T>C (hg19) ; chr19:g.1047601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1047601T>C , CM000681.2:g.1047601T>C	GRCh38
NC_000019.9:g.1047600T>C , CM000681.1:g.1047600T>C	GRCh37
NC_000019.8:g.998600T>C	NCBI36
NG_046909.1:g.12499T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263094.11:c.2216T>C MANE Select	ENSP00000263094.6:p.Leu739Pro
ENST00000433129.6:n.2896T>C
ENST00000263094.10:c.2216T>C	ENSP00000263094.6:p.Leu739Pro
ENST00000433129.5:c.2216T>C	ENSP00000414062.1:p.Leu739Pro
ENST00000435683.6:c.1802T>C	ENSP00000465322.1:p.Leu601Pro
NM_019112.3:c.2216T>C	NP_061985.2:p.Leu739Pro
XM_006722616.1:c.2216T>C	XP_006722679.1:p.Leu739Pro
XM_006722617.2:c.2216T>C	XP_006722680.1:p.Leu739Pro
XM_006722618.2:c.-76T>C	XP_006722681.1:n.-76T>C
XM_011527628.1:c.2216T>C	XP_011525930.1:p.Leu739Pro
XM_011527629.1:c.2216T>C	XP_011525931.1:p.Leu739Pro
XM_011527630.1:c.2216T>C	XP_011525932.1:p.Leu739Pro
XM_011527631.1:c.2216T>C	XP_011525933.1:p.Leu739Pro
XM_011527632.1:c.1760T>C	XP_011525934.1:p.Leu587Pro
XM_011527633.1:c.2216T>C	XP_011525935.1:p.Leu739Pro
XM_011527634.1:c.2216T>C	XP_011525936.1:p.Leu739Pro
XM_011527635.1:c.2216T>C	XP_011525937.1:p.Leu739Pro
XM_011527636.1:c.-53T>C	XP_011525938.1:n.-53T>C
XR_936148.1:n.2434T>C
XR_936149.1:n.2434T>C
XR_936150.1:n.2434T>C
XR_936151.1:n.2434T>C
XR_936152.1:n.2434T>C
XR_936153.1:n.2434T>C
XR_936154.1:n.2434T>C
XR_936155.1:n.2434T>C
XM_011527633.2:c.2216T>C	XP_011525935.1:p.Leu739Pro
XM_017026143.1:c.2216T>C	XP_016881632.1:p.Leu739Pro
XM_024451315.1:c.2216T>C	XP_024307083.1:p.Leu739Pro
XM_024451316.1:c.2216T>C	XP_024307084.1:p.Leu739Pro
XM_024451317.1:c.2216T>C	XP_024307085.1:p.Leu739Pro
XM_024451318.1:c.2216T>C	XP_024307086.1:p.Leu739Pro
XM_024451319.1:c.2216T>C	XP_024307087.1:p.Leu739Pro
XM_024451320.1:c.2216T>C	XP_024307088.1:p.Leu739Pro
XM_024451321.1:c.2216T>C	XP_024307089.1:p.Leu739Pro
XM_024451322.1:c.1760T>C	XP_024307090.1:p.Leu587Pro
XM_024451323.1:c.2216T>C	XP_024307091.1:p.Leu739Pro
XM_024451324.1:c.-76T>C	XP_024307092.1:n.-76T>C
XM_024451325.1:c.-53T>C	XP_024307093.1:n.-53T>C
XR_001753585.1:n.2434T>C
XR_001753586.1:n.2434T>C
XR_002958240.1:n.2434T>C
XR_002958241.1:n.2434T>C
XR_002958242.1:n.2434T>C
NM_019112.4:c.2216T>C MANE Select	NP_061985.2:p.Leu739Pro