Canonical Allele Identifier: CA346674816

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121723C>G (hg19) ; chr2:g.43894584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894584C>G , CM000664.2:g.43894584C>G	GRCh38
NC_000002.11:g.44121723C>G , CM000664.1:g.44121723C>G	GRCh37
NC_000002.10:g.43975227C>G	NCBI36
NG_008247.1:g.106422G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.576G>C
ENST00000681993.1:n.1498G>C
ENST00000682154.1:n.1380G>C
ENST00000682303.1:c.*3657G>C	ENSP00000508325.1:n.*3657G>C
ENST00000682308.1:c.3871G>C	ENSP00000507056.1:p.Glu1291Gln
ENST00000682434.1:n.3501G>C
ENST00000682480.1:c.3964G>C	ENSP00000508344.1:p.Glu1322Gln
ENST00000682546.1:c.3943G>C	ENSP00000508188.1:p.Glu1315Gln
ENST00000682585.1:c.*74G>C	ENSP00000506885.1:n.*74G>C
ENST00000682607.1:c.2689G>C
ENST00000682612.1:c.752+2050G>C
ENST00000682696.1:c.46G>C	ENSP00000508411.1:p.Glu16Gln
ENST00000682779.1:c.3937G>C	ENSP00000507947.1:p.Glu1313Gln
ENST00000682885.1:c.3901G>C	ENSP00000508036.1:p.Glu1301Gln
ENST00000682933.1:n.4146G>C
ENST00000683002.1:c.798G>C
ENST00000683072.1:n.4530G>C
ENST00000683080.1:n.1565G>C
ENST00000683096.1:n.2387G>C
ENST00000683125.1:c.4054G>C	ENSP00000507939.1:p.Glu1352Gln
ENST00000683213.1:c.3949G>C	ENSP00000507751.1:p.Glu1317Gln
ENST00000683220.1:c.3976G>C	ENSP00000507151.1:p.Glu1326Gln
ENST00000683329.1:n.4749G>C
ENST00000683346.1:c.*3821G>C	ENSP00000507458.1:n.*3821G>C
ENST00000683409.1:n.2478G>C
ENST00000683459.1:n.4533G>C
ENST00000683590.1:c.3619G>C	ENSP00000506820.1:p.Glu1207Gln
ENST00000683623.1:c.3853G>C	ENSP00000507702.1:p.Glu1285Gln
ENST00000683796.1:c.*3743G>C	ENSP00000508221.1:n.*3743G>C
ENST00000683833.1:c.3862G>C	ENSP00000506852.1:p.Glu1288Gln
ENST00000683994.1:c.*59G>C	ENSP00000507181.1:n.*59G>C
ENST00000684290.1:c.*1407G>C	ENSP00000507243.1:n.*1407G>C
ENST00000684306.1:c.*3859G>C	ENSP00000508384.1:n.*3859G>C
ENST00000684383.1:c.*3584G>C	ENSP00000506863.1:n.*3584G>C
ENST00000684418.1:n.5127G>C
ENST00000684433.1:n.330G>C
ENST00000684454.1:n.7810G>C
ENST00000684619.1:c.*3818G>C	ENSP00000508088.1:n.*3818G>C
ENST00000684743.1:n.6691G>C
ENST00000260665.12:c.3946G>C MANE Select	ENSP00000260665.7:p.Glu1316Gln
ENST00000260665.11:c.3946G>C	ENSP00000260665.7:p.Glu1316Gln
ENST00000419884.5:c.187G>C	ENSP00000414207.1:p.Glu63Gln
ENST00000463456.5:n.2989G>C
NM_133259.3:c.3946G>C	NP_573566.2:p.Glu1316Gln
XM_006711915.2:c.3868G>C	XP_006711978.1:p.Glu1290Gln
XM_011532473.1:c.3871G>C	XP_011530775.1:p.Glu1291Gln
XM_011532474.1:c.3946G>C	XP_011530776.1:p.Glu1316Gln
XM_017003117.1:c.3793G>C	XP_016858606.1:p.Glu1265Gln
XR_002958896.1:n.3988G>C
NM_133259.4:c.3946G>C MANE Select	NP_573566.2:p.Glu1316Gln