Canonical Allele Identifier: CA1637958

Gene: LRPPRC

Linked Data

• dbSNP Id: rs750300619
• ExAC: 2:44126433 A / T
• gnomAD v2: 2-44126433-A-T
• gnomAD v3: 2-43899294-A-T
• gnomAD v4: 2-43899294-A-T
• MyVariant Identifiers: chr2:g.44126433A>T (hg19) ; chr2:g.43899294A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899294A>T , CM000664.2:g.43899294A>T	GRCh38
NC_000002.11:g.44126433A>T , CM000664.1:g.44126433A>T	GRCh37
NC_000002.10:g.43979937A>T	NCBI36
NG_008247.1:g.101712T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.181T>A
ENST00000472420.6:n.829T>A
ENST00000483489.2:n.181T>A
ENST00000681993.1:n.1302T>A
ENST00000682303.1:c.*3536T>A	ENSP00000508325.1:n.*3536T>A
ENST00000682308.1:c.3750T>A	ENSP00000507056.1:p.Ile1250=
ENST00000682434.1:n.1301T>A
ENST00000682480.1:c.3768T>A	ENSP00000508344.1:p.Ile1256=
ENST00000682546.1:c.3747T>A	ENSP00000508188.1:p.Ile1249=
ENST00000682585.1:c.3750T>A	ENSP00000506885.1:p.Ile1250=
ENST00000682595.1:n.4334T>A
ENST00000682607.1:c.2168T>A
ENST00000682612.1:c.602T>A
ENST00000682779.1:c.3741T>A	ENSP00000507947.1:p.Ile1247=
ENST00000682845.1:n.2852T>A
ENST00000682885.1:c.3705T>A	ENSP00000508036.1:p.Ile1235=
ENST00000682933.1:n.3824T>A
ENST00000683002.1:c.602T>A
ENST00000683072.1:n.4334T>A
ENST00000683080.1:n.1369T>A
ENST00000683125.1:c.3858T>A	ENSP00000507939.1:p.Ile1286=
ENST00000683213.1:c.3753T>A	ENSP00000507751.1:p.Ile1251=
ENST00000683220.1:c.3780T>A	ENSP00000507151.1:p.Ile1260=
ENST00000683329.1:n.4553T>A
ENST00000683346.1:c.*3625T>A	ENSP00000507458.1:n.*3625T>A
ENST00000683409.1:n.2357T>A
ENST00000683459.1:n.4337T>A
ENST00000683528.1:c.678T>A
ENST00000683590.1:c.3498T>A	ENSP00000506820.1:p.Ile1166=
ENST00000683623.1:c.3657T>A	ENSP00000507702.1:p.Ile1219=
ENST00000683645.1:n.4301T>A
ENST00000683796.1:c.*3622T>A	ENSP00000508221.1:n.*3622T>A
ENST00000683802.1:n.6675T>A
ENST00000683833.1:c.3741T>A	ENSP00000506852.1:p.Ile1247=
ENST00000683994.1:c.3750T>A	ENSP00000507181.1:p.Ile1250=
ENST00000684290.1:c.*1286T>A	ENSP00000507243.1:n.*1286T>A
ENST00000684306.1:c.*3663T>A	ENSP00000508384.1:n.*3663T>A
ENST00000684341.1:n.3770T>A
ENST00000684383.1:c.*3388T>A	ENSP00000506863.1:n.*3388T>A
ENST00000684418.1:n.4931T>A
ENST00000684433.1:n.134T>A
ENST00000684454.1:n.3100T>A
ENST00000684619.1:c.*3622T>A	ENSP00000508088.1:n.*3622T>A
ENST00000684743.1:n.6495T>A
ENST00000260665.12:c.3750T>A MANE Select	ENSP00000260665.7:p.Ile1250=
ENST00000260665.11:c.3750T>A	ENSP00000260665.7:p.Ile1250=
ENST00000463456.5:n.2793T>A
ENST00000472420.5:n.147T>A
ENST00000483489.1:n.224T>A
NM_133259.3:c.3750T>A	NP_573566.2:p.Ile1250=
XM_006711915.2:c.3672T>A	XP_006711978.1:p.Ile1224=
XM_011532473.1:c.3750T>A	XP_011530775.1:p.Ile1250=
XM_011532474.1:c.3750T>A	XP_011530776.1:p.Ile1250=
XM_017003117.1:c.3672T>A	XP_016858606.1:p.Ile1224=
XR_002958896.1:n.3792T>A
NM_133259.4:c.3750T>A MANE Select	NP_573566.2:p.Ile1250=