Canonical Allele Identifier: CA346674790

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121713T>G (hg19) ; chr2:g.43894574T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894574T>G , CM000664.2:g.43894574T>G	GRCh38
NC_000002.11:g.44121713T>G , CM000664.1:g.44121713T>G	GRCh37
NC_000002.10:g.43975217T>G	NCBI36
NG_008247.1:g.106432A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.586A>C
ENST00000681993.1:n.1508A>C
ENST00000682154.1:n.1390A>C
ENST00000682303.1:c.*3667A>C	ENSP00000508325.1:n.*3667A>C
ENST00000682308.1:c.3881A>C	ENSP00000507056.1:p.Glu1294Ala
ENST00000682434.1:n.3511A>C
ENST00000682480.1:c.3974A>C	ENSP00000508344.1:p.Glu1325Ala
ENST00000682546.1:c.3953A>C	ENSP00000508188.1:p.Glu1318Ala
ENST00000682585.1:c.*84A>C	ENSP00000506885.1:n.*84A>C
ENST00000682607.1:c.2699A>C
ENST00000682612.1:c.752+2060A>C
ENST00000682696.1:c.56A>C	ENSP00000508411.1:p.Glu19Ala
ENST00000682779.1:c.3947A>C	ENSP00000507947.1:p.Glu1316Ala
ENST00000682885.1:c.3911A>C	ENSP00000508036.1:p.Glu1304Ala
ENST00000682933.1:n.4156A>C
ENST00000683002.1:c.808A>C
ENST00000683072.1:n.4540A>C
ENST00000683080.1:n.1575A>C
ENST00000683096.1:n.2397A>C
ENST00000683125.1:c.4064A>C	ENSP00000507939.1:p.Glu1355Ala
ENST00000683213.1:c.3959A>C	ENSP00000507751.1:p.Glu1320Ala
ENST00000683220.1:c.3986A>C	ENSP00000507151.1:p.Glu1329Ala
ENST00000683329.1:n.4759A>C
ENST00000683346.1:c.*3831A>C	ENSP00000507458.1:n.*3831A>C
ENST00000683409.1:n.2488A>C
ENST00000683459.1:n.4543A>C
ENST00000683590.1:c.3629A>C	ENSP00000506820.1:p.Glu1210Ala
ENST00000683623.1:c.3863A>C	ENSP00000507702.1:p.Glu1288Ala
ENST00000683796.1:c.*3753A>C	ENSP00000508221.1:n.*3753A>C
ENST00000683833.1:c.3872A>C	ENSP00000506852.1:p.Glu1291Ala
ENST00000683994.1:c.*69A>C	ENSP00000507181.1:n.*69A>C
ENST00000684290.1:c.*1417A>C	ENSP00000507243.1:n.*1417A>C
ENST00000684306.1:c.*3869A>C	ENSP00000508384.1:n.*3869A>C
ENST00000684383.1:c.*3594A>C	ENSP00000506863.1:n.*3594A>C
ENST00000684418.1:n.5137A>C
ENST00000684433.1:n.340A>C
ENST00000684454.1:n.7820A>C
ENST00000684619.1:c.*3828A>C	ENSP00000508088.1:n.*3828A>C
ENST00000684743.1:n.6701A>C
ENST00000260665.12:c.3956A>C MANE Select	ENSP00000260665.7:p.Glu1319Ala
ENST00000260665.11:c.3956A>C	ENSP00000260665.7:p.Glu1319Ala
ENST00000419884.5:c.197A>C	ENSP00000414207.1:p.Glu66Ala
ENST00000463456.5:n.2999A>C
NM_133259.3:c.3956A>C	NP_573566.2:p.Glu1319Ala
XM_006711915.2:c.3878A>C	XP_006711978.1:p.Glu1293Ala
XM_011532473.1:c.3881A>C	XP_011530775.1:p.Glu1294Ala
XM_011532474.1:c.3956A>C	XP_011530776.1:p.Glu1319Ala
XM_017003117.1:c.3803A>C	XP_016858606.1:p.Glu1268Ala
XR_002958896.1:n.3998A>C
NM_133259.4:c.3956A>C MANE Select	NP_573566.2:p.Glu1319Ala