Canonical Allele Identifier: CA346674787

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670614045
• gnomAD v3: 2-43894573-T-G
• gnomAD v4: 2-43894573-T-G
• MyVariant Identifiers: chr2:g.44121712T>G (hg19) ; chr2:g.43894573T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894573T>G , CM000664.2:g.43894573T>G	GRCh38
NC_000002.11:g.44121712T>G , CM000664.1:g.44121712T>G	GRCh37
NC_000002.10:g.43975216T>G	NCBI36
NG_008247.1:g.106433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.587A>C
ENST00000681993.1:n.1509A>C
ENST00000682154.1:n.1391A>C
ENST00000682303.1:c.*3668A>C	ENSP00000508325.1:n.*3668A>C
ENST00000682308.1:c.3882A>C	ENSP00000507056.1:p.Glu1294Asp
ENST00000682434.1:n.3512A>C
ENST00000682480.1:c.3975A>C	ENSP00000508344.1:p.Glu1325Asp
ENST00000682546.1:c.3954A>C	ENSP00000508188.1:p.Glu1318Asp
ENST00000682585.1:c.*85A>C	ENSP00000506885.1:n.*85A>C
ENST00000682607.1:c.2700A>C
ENST00000682612.1:c.752+2061A>C
ENST00000682696.1:c.57A>C	ENSP00000508411.1:p.Glu19Asp
ENST00000682779.1:c.3948A>C	ENSP00000507947.1:p.Glu1316Asp
ENST00000682885.1:c.3912A>C	ENSP00000508036.1:p.Glu1304Asp
ENST00000682933.1:n.4157A>C
ENST00000683002.1:c.809A>C
ENST00000683072.1:n.4541A>C
ENST00000683080.1:n.1576A>C
ENST00000683096.1:n.2398A>C
ENST00000683125.1:c.4065A>C	ENSP00000507939.1:p.Glu1355Asp
ENST00000683213.1:c.3960A>C	ENSP00000507751.1:p.Glu1320Asp
ENST00000683220.1:c.3987A>C	ENSP00000507151.1:p.Glu1329Asp
ENST00000683329.1:n.4760A>C
ENST00000683346.1:c.*3832A>C	ENSP00000507458.1:n.*3832A>C
ENST00000683409.1:n.2489A>C
ENST00000683459.1:n.4544A>C
ENST00000683590.1:c.3630A>C	ENSP00000506820.1:p.Glu1210Asp
ENST00000683623.1:c.3864A>C	ENSP00000507702.1:p.Glu1288Asp
ENST00000683796.1:c.*3754A>C	ENSP00000508221.1:n.*3754A>C
ENST00000683833.1:c.3873A>C	ENSP00000506852.1:p.Glu1291Asp
ENST00000683994.1:c.*70A>C	ENSP00000507181.1:n.*70A>C
ENST00000684290.1:c.*1418A>C	ENSP00000507243.1:n.*1418A>C
ENST00000684306.1:c.*3870A>C	ENSP00000508384.1:n.*3870A>C
ENST00000684383.1:c.*3595A>C	ENSP00000506863.1:n.*3595A>C
ENST00000684418.1:n.5138A>C
ENST00000684433.1:n.341A>C
ENST00000684454.1:n.7821A>C
ENST00000684619.1:c.*3829A>C	ENSP00000508088.1:n.*3829A>C
ENST00000684743.1:n.6702A>C
ENST00000260665.12:c.3957A>C MANE Select	ENSP00000260665.7:p.Glu1319Asp
ENST00000260665.11:c.3957A>C	ENSP00000260665.7:p.Glu1319Asp
ENST00000419884.5:c.198A>C	ENSP00000414207.1:p.Glu66Asp
ENST00000463456.5:n.3000A>C
NM_133259.3:c.3957A>C	NP_573566.2:p.Glu1319Asp
XM_006711915.2:c.3879A>C	XP_006711978.1:p.Glu1293Asp
XM_011532473.1:c.3882A>C	XP_011530775.1:p.Glu1294Asp
XM_011532474.1:c.3957A>C	XP_011530776.1:p.Glu1319Asp
XM_017003117.1:c.3804A>C	XP_016858606.1:p.Glu1268Asp
XR_002958896.1:n.3999A>C
NM_133259.4:c.3957A>C MANE Select	NP_573566.2:p.Glu1319Asp