Canonical Allele Identifier: CA1637875

Gene: LRPPRC

Linked Data

• dbSNP Id: rs777662937
• ExAC: 2:44121719 T / C
• gnomAD v2: 2-44121719-T-C
• gnomAD v4: 2-43894580-T-C
• COSMIC: COSM1471380
• MyVariant Identifiers: chr2:g.44121719T>C (hg19) ; chr2:g.43894580T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894580T>C , CM000664.2:g.43894580T>C	GRCh38
NC_000002.11:g.44121719T>C , CM000664.1:g.44121719T>C	GRCh37
NC_000002.10:g.43975223T>C	NCBI36
NG_008247.1:g.106426A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.580A>G
ENST00000681993.1:n.1502A>G
ENST00000682154.1:n.1384A>G
ENST00000682303.1:c.*3661A>G	ENSP00000508325.1:n.*3661A>G
ENST00000682308.1:c.3875A>G	ENSP00000507056.1:p.Lys1292Arg
ENST00000682434.1:n.3505A>G
ENST00000682480.1:c.3968A>G	ENSP00000508344.1:p.Lys1323Arg
ENST00000682546.1:c.3947A>G	ENSP00000508188.1:p.Lys1316Arg
ENST00000682585.1:c.*78A>G	ENSP00000506885.1:n.*78A>G
ENST00000682607.1:c.2693A>G
ENST00000682612.1:c.752+2054A>G
ENST00000682696.1:c.50A>G	ENSP00000508411.1:p.Lys17Arg
ENST00000682779.1:c.3941A>G	ENSP00000507947.1:p.Lys1314Arg
ENST00000682885.1:c.3905A>G	ENSP00000508036.1:p.Lys1302Arg
ENST00000682933.1:n.4150A>G
ENST00000683002.1:c.802A>G
ENST00000683072.1:n.4534A>G
ENST00000683080.1:n.1569A>G
ENST00000683096.1:n.2391A>G
ENST00000683125.1:c.4058A>G	ENSP00000507939.1:p.Lys1353Arg
ENST00000683213.1:c.3953A>G	ENSP00000507751.1:p.Lys1318Arg
ENST00000683220.1:c.3980A>G	ENSP00000507151.1:p.Lys1327Arg
ENST00000683329.1:n.4753A>G
ENST00000683346.1:c.*3825A>G	ENSP00000507458.1:n.*3825A>G
ENST00000683409.1:n.2482A>G
ENST00000683459.1:n.4537A>G
ENST00000683590.1:c.3623A>G	ENSP00000506820.1:p.Lys1208Arg
ENST00000683623.1:c.3857A>G	ENSP00000507702.1:p.Lys1286Arg
ENST00000683796.1:c.*3747A>G	ENSP00000508221.1:n.*3747A>G
ENST00000683833.1:c.3866A>G	ENSP00000506852.1:p.Lys1289Arg
ENST00000683994.1:c.*63A>G	ENSP00000507181.1:n.*63A>G
ENST00000684290.1:c.*1411A>G	ENSP00000507243.1:n.*1411A>G
ENST00000684306.1:c.*3863A>G	ENSP00000508384.1:n.*3863A>G
ENST00000684383.1:c.*3588A>G	ENSP00000506863.1:n.*3588A>G
ENST00000684418.1:n.5131A>G
ENST00000684433.1:n.334A>G
ENST00000684454.1:n.7814A>G
ENST00000684619.1:c.*3822A>G	ENSP00000508088.1:n.*3822A>G
ENST00000684743.1:n.6695A>G
ENST00000260665.12:c.3950A>G MANE Select	ENSP00000260665.7:p.Lys1317Arg
ENST00000260665.11:c.3950A>G	ENSP00000260665.7:p.Lys1317Arg
ENST00000419884.5:c.191A>G	ENSP00000414207.1:p.Lys64Arg
ENST00000463456.5:n.2993A>G
NM_133259.3:c.3950A>G	NP_573566.2:p.Lys1317Arg
XM_006711915.2:c.3872A>G	XP_006711978.1:p.Lys1291Arg
XM_011532473.1:c.3875A>G	XP_011530775.1:p.Lys1292Arg
XM_011532474.1:c.3950A>G	XP_011530776.1:p.Lys1317Arg
XM_017003117.1:c.3797A>G	XP_016858606.1:p.Lys1266Arg
XR_002958896.1:n.3992A>G
NM_133259.4:c.3950A>G MANE Select	NP_573566.2:p.Lys1317Arg