Canonical Allele Identifier: CA346676643

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670803733
• gnomAD v3: 2-43899299-C-T
• gnomAD v4: 2-43899299-C-T
• MyVariant Identifiers: chr2:g.44126438C>T (hg19) ; chr2:g.43899299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899299C>T , CM000664.2:g.43899299C>T	GRCh38
NC_000002.11:g.44126438C>T , CM000664.1:g.44126438C>T	GRCh37
NC_000002.10:g.43979942C>T	NCBI36
NG_008247.1:g.101707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.176G>A
ENST00000472420.6:n.824G>A
ENST00000483489.2:n.176G>A
ENST00000681993.1:n.1297G>A
ENST00000682303.1:c.*3531G>A	ENSP00000508325.1:n.*3531G>A
ENST00000682308.1:c.3745G>A	ENSP00000507056.1:p.Ala1249Thr
ENST00000682434.1:n.1296G>A
ENST00000682480.1:c.3763G>A	ENSP00000508344.1:p.Ala1255Thr
ENST00000682546.1:c.3742G>A	ENSP00000508188.1:p.Ala1248Thr
ENST00000682585.1:c.3745G>A	ENSP00000506885.1:p.Ala1249Thr
ENST00000682595.1:n.4329G>A
ENST00000682607.1:c.2163G>A
ENST00000682612.1:c.597G>A
ENST00000682779.1:c.3736G>A	ENSP00000507947.1:p.Ala1246Thr
ENST00000682845.1:n.2847G>A
ENST00000682885.1:c.3700G>A	ENSP00000508036.1:p.Ala1234Thr
ENST00000682933.1:n.3819G>A
ENST00000683002.1:c.597G>A
ENST00000683072.1:n.4329G>A
ENST00000683080.1:n.1364G>A
ENST00000683125.1:c.3853G>A	ENSP00000507939.1:p.Ala1285Thr
ENST00000683213.1:c.3748G>A	ENSP00000507751.1:p.Ala1250Thr
ENST00000683220.1:c.3775G>A	ENSP00000507151.1:p.Ala1259Thr
ENST00000683329.1:n.4548G>A
ENST00000683346.1:c.*3620G>A	ENSP00000507458.1:n.*3620G>A
ENST00000683409.1:n.2352G>A
ENST00000683459.1:n.4332G>A
ENST00000683528.1:c.673G>A
ENST00000683590.1:c.3493G>A	ENSP00000506820.1:p.Ala1165Thr
ENST00000683623.1:c.3652G>A	ENSP00000507702.1:p.Ala1218Thr
ENST00000683645.1:n.4296G>A
ENST00000683796.1:c.*3617G>A	ENSP00000508221.1:n.*3617G>A
ENST00000683802.1:n.6670G>A
ENST00000683833.1:c.3736G>A	ENSP00000506852.1:p.Ala1246Thr
ENST00000683994.1:c.3745G>A	ENSP00000507181.1:p.Ala1249Thr
ENST00000684290.1:c.*1281G>A	ENSP00000507243.1:n.*1281G>A
ENST00000684306.1:c.*3658G>A	ENSP00000508384.1:n.*3658G>A
ENST00000684341.1:n.3765G>A
ENST00000684383.1:c.*3383G>A	ENSP00000506863.1:n.*3383G>A
ENST00000684418.1:n.4926G>A
ENST00000684433.1:n.129G>A
ENST00000684454.1:n.3095G>A
ENST00000684619.1:c.*3617G>A	ENSP00000508088.1:n.*3617G>A
ENST00000684743.1:n.6490G>A
ENST00000260665.12:c.3745G>A MANE Select	ENSP00000260665.7:p.Ala1249Thr
ENST00000260665.11:c.3745G>A	ENSP00000260665.7:p.Ala1249Thr
ENST00000463456.5:n.2788G>A
ENST00000472420.5:n.142G>A
ENST00000483489.1:n.219G>A
NM_133259.3:c.3745G>A	NP_573566.2:p.Ala1249Thr
XM_006711915.2:c.3667G>A	XP_006711978.1:p.Ala1223Thr
XM_011532473.1:c.3745G>A	XP_011530775.1:p.Ala1249Thr
XM_011532474.1:c.3745G>A	XP_011530776.1:p.Ala1249Thr
XM_017003117.1:c.3667G>A	XP_016858606.1:p.Ala1223Thr
XR_002958896.1:n.3787G>A
NM_133259.4:c.3745G>A MANE Select	NP_573566.2:p.Ala1249Thr