Canonical Allele Identifier: CA346674795

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121715T>G (hg19) ; chr2:g.43894576T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894576T>G , CM000664.2:g.43894576T>G	GRCh38
NC_000002.11:g.44121715T>G , CM000664.1:g.44121715T>G	GRCh37
NC_000002.10:g.43975219T>G	NCBI36
NG_008247.1:g.106430A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.584A>C
ENST00000681993.1:n.1506A>C
ENST00000682154.1:n.1388A>C
ENST00000682303.1:c.*3665A>C	ENSP00000508325.1:n.*3665A>C
ENST00000682308.1:c.3879A>C	ENSP00000507056.1:p.Glu1293Asp
ENST00000682434.1:n.3509A>C
ENST00000682480.1:c.3972A>C	ENSP00000508344.1:p.Glu1324Asp
ENST00000682546.1:c.3951A>C	ENSP00000508188.1:p.Glu1317Asp
ENST00000682585.1:c.*82A>C	ENSP00000506885.1:n.*82A>C
ENST00000682607.1:c.2697A>C
ENST00000682612.1:c.752+2058A>C
ENST00000682696.1:c.54A>C	ENSP00000508411.1:p.Glu18Asp
ENST00000682779.1:c.3945A>C	ENSP00000507947.1:p.Glu1315Asp
ENST00000682885.1:c.3909A>C	ENSP00000508036.1:p.Glu1303Asp
ENST00000682933.1:n.4154A>C
ENST00000683002.1:c.806A>C
ENST00000683072.1:n.4538A>C
ENST00000683080.1:n.1573A>C
ENST00000683096.1:n.2395A>C
ENST00000683125.1:c.4062A>C	ENSP00000507939.1:p.Glu1354Asp
ENST00000683213.1:c.3957A>C	ENSP00000507751.1:p.Glu1319Asp
ENST00000683220.1:c.3984A>C	ENSP00000507151.1:p.Glu1328Asp
ENST00000683329.1:n.4757A>C
ENST00000683346.1:c.*3829A>C	ENSP00000507458.1:n.*3829A>C
ENST00000683409.1:n.2486A>C
ENST00000683459.1:n.4541A>C
ENST00000683590.1:c.3627A>C	ENSP00000506820.1:p.Glu1209Asp
ENST00000683623.1:c.3861A>C	ENSP00000507702.1:p.Glu1287Asp
ENST00000683796.1:c.*3751A>C	ENSP00000508221.1:n.*3751A>C
ENST00000683833.1:c.3870A>C	ENSP00000506852.1:p.Glu1290Asp
ENST00000683994.1:c.*67A>C	ENSP00000507181.1:n.*67A>C
ENST00000684290.1:c.*1415A>C	ENSP00000507243.1:n.*1415A>C
ENST00000684306.1:c.*3867A>C	ENSP00000508384.1:n.*3867A>C
ENST00000684383.1:c.*3592A>C	ENSP00000506863.1:n.*3592A>C
ENST00000684418.1:n.5135A>C
ENST00000684433.1:n.338A>C
ENST00000684454.1:n.7818A>C
ENST00000684619.1:c.*3826A>C	ENSP00000508088.1:n.*3826A>C
ENST00000684743.1:n.6699A>C
ENST00000260665.12:c.3954A>C MANE Select	ENSP00000260665.7:p.Glu1318Asp
ENST00000260665.11:c.3954A>C	ENSP00000260665.7:p.Glu1318Asp
ENST00000419884.5:c.195A>C	ENSP00000414207.1:p.Glu65Asp
ENST00000463456.5:n.2997A>C
NM_133259.3:c.3954A>C	NP_573566.2:p.Glu1318Asp
XM_006711915.2:c.3876A>C	XP_006711978.1:p.Glu1292Asp
XM_011532473.1:c.3879A>C	XP_011530775.1:p.Glu1293Asp
XM_011532474.1:c.3954A>C	XP_011530776.1:p.Glu1318Asp
XM_017003117.1:c.3801A>C	XP_016858606.1:p.Glu1267Asp
XR_002958896.1:n.3996A>C
NM_133259.4:c.3954A>C MANE Select	NP_573566.2:p.Glu1318Asp