Canonical Allele Identifier: CA346674810

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121721T>G (hg19) ; chr2:g.43894582T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894582T>G , CM000664.2:g.43894582T>G	GRCh38
NC_000002.11:g.44121721T>G , CM000664.1:g.44121721T>G	GRCh37
NC_000002.10:g.43975225T>G	NCBI36
NG_008247.1:g.106424A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.578A>C
ENST00000681993.1:n.1500A>C
ENST00000682154.1:n.1382A>C
ENST00000682303.1:c.*3659A>C	ENSP00000508325.1:n.*3659A>C
ENST00000682308.1:c.3873A>C	ENSP00000507056.1:p.Glu1291Asp
ENST00000682434.1:n.3503A>C
ENST00000682480.1:c.3966A>C	ENSP00000508344.1:p.Glu1322Asp
ENST00000682546.1:c.3945A>C	ENSP00000508188.1:p.Glu1315Asp
ENST00000682585.1:c.*76A>C	ENSP00000506885.1:n.*76A>C
ENST00000682607.1:c.2691A>C
ENST00000682612.1:c.752+2052A>C
ENST00000682696.1:c.48A>C	ENSP00000508411.1:p.Glu16Asp
ENST00000682779.1:c.3939A>C	ENSP00000507947.1:p.Glu1313Asp
ENST00000682885.1:c.3903A>C	ENSP00000508036.1:p.Glu1301Asp
ENST00000682933.1:n.4148A>C
ENST00000683002.1:c.800A>C
ENST00000683072.1:n.4532A>C
ENST00000683080.1:n.1567A>C
ENST00000683096.1:n.2389A>C
ENST00000683125.1:c.4056A>C	ENSP00000507939.1:p.Glu1352Asp
ENST00000683213.1:c.3951A>C	ENSP00000507751.1:p.Glu1317Asp
ENST00000683220.1:c.3978A>C	ENSP00000507151.1:p.Glu1326Asp
ENST00000683329.1:n.4751A>C
ENST00000683346.1:c.*3823A>C	ENSP00000507458.1:n.*3823A>C
ENST00000683409.1:n.2480A>C
ENST00000683459.1:n.4535A>C
ENST00000683590.1:c.3621A>C	ENSP00000506820.1:p.Glu1207Asp
ENST00000683623.1:c.3855A>C	ENSP00000507702.1:p.Glu1285Asp
ENST00000683796.1:c.*3745A>C	ENSP00000508221.1:n.*3745A>C
ENST00000683833.1:c.3864A>C	ENSP00000506852.1:p.Glu1288Asp
ENST00000683994.1:c.*61A>C	ENSP00000507181.1:n.*61A>C
ENST00000684290.1:c.*1409A>C	ENSP00000507243.1:n.*1409A>C
ENST00000684306.1:c.*3861A>C	ENSP00000508384.1:n.*3861A>C
ENST00000684383.1:c.*3586A>C	ENSP00000506863.1:n.*3586A>C
ENST00000684418.1:n.5129A>C
ENST00000684433.1:n.332A>C
ENST00000684454.1:n.7812A>C
ENST00000684619.1:c.*3820A>C	ENSP00000508088.1:n.*3820A>C
ENST00000684743.1:n.6693A>C
ENST00000260665.12:c.3948A>C MANE Select	ENSP00000260665.7:p.Glu1316Asp
ENST00000260665.11:c.3948A>C	ENSP00000260665.7:p.Glu1316Asp
ENST00000419884.5:c.189A>C	ENSP00000414207.1:p.Glu63Asp
ENST00000463456.5:n.2991A>C
NM_133259.3:c.3948A>C	NP_573566.2:p.Glu1316Asp
XM_006711915.2:c.3870A>C	XP_006711978.1:p.Glu1290Asp
XM_011532473.1:c.3873A>C	XP_011530775.1:p.Glu1291Asp
XM_011532474.1:c.3948A>C	XP_011530776.1:p.Glu1316Asp
XM_017003117.1:c.3795A>C	XP_016858606.1:p.Glu1265Asp
XR_002958896.1:n.3990A>C
NM_133259.4:c.3948A>C MANE Select	NP_573566.2:p.Glu1316Asp