Canonical Allele Identifier: CA346674812

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121722T>G (hg19) ; chr2:g.43894583T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894583T>G , CM000664.2:g.43894583T>G	GRCh38
NC_000002.11:g.44121722T>G , CM000664.1:g.44121722T>G	GRCh37
NC_000002.10:g.43975226T>G	NCBI36
NG_008247.1:g.106423A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.577A>C
ENST00000681993.1:n.1499A>C
ENST00000682154.1:n.1381A>C
ENST00000682303.1:c.*3658A>C	ENSP00000508325.1:n.*3658A>C
ENST00000682308.1:c.3872A>C	ENSP00000507056.1:p.Glu1291Ala
ENST00000682434.1:n.3502A>C
ENST00000682480.1:c.3965A>C	ENSP00000508344.1:p.Glu1322Ala
ENST00000682546.1:c.3944A>C	ENSP00000508188.1:p.Glu1315Ala
ENST00000682585.1:c.*75A>C	ENSP00000506885.1:n.*75A>C
ENST00000682607.1:c.2690A>C
ENST00000682612.1:c.752+2051A>C
ENST00000682696.1:c.47A>C	ENSP00000508411.1:p.Glu16Ala
ENST00000682779.1:c.3938A>C	ENSP00000507947.1:p.Glu1313Ala
ENST00000682885.1:c.3902A>C	ENSP00000508036.1:p.Glu1301Ala
ENST00000682933.1:n.4147A>C
ENST00000683002.1:c.799A>C
ENST00000683072.1:n.4531A>C
ENST00000683080.1:n.1566A>C
ENST00000683096.1:n.2388A>C
ENST00000683125.1:c.4055A>C	ENSP00000507939.1:p.Glu1352Ala
ENST00000683213.1:c.3950A>C	ENSP00000507751.1:p.Glu1317Ala
ENST00000683220.1:c.3977A>C	ENSP00000507151.1:p.Glu1326Ala
ENST00000683329.1:n.4750A>C
ENST00000683346.1:c.*3822A>C	ENSP00000507458.1:n.*3822A>C
ENST00000683409.1:n.2479A>C
ENST00000683459.1:n.4534A>C
ENST00000683590.1:c.3620A>C	ENSP00000506820.1:p.Glu1207Ala
ENST00000683623.1:c.3854A>C	ENSP00000507702.1:p.Glu1285Ala
ENST00000683796.1:c.*3744A>C	ENSP00000508221.1:n.*3744A>C
ENST00000683833.1:c.3863A>C	ENSP00000506852.1:p.Glu1288Ala
ENST00000683994.1:c.*60A>C	ENSP00000507181.1:n.*60A>C
ENST00000684290.1:c.*1408A>C	ENSP00000507243.1:n.*1408A>C
ENST00000684306.1:c.*3860A>C	ENSP00000508384.1:n.*3860A>C
ENST00000684383.1:c.*3585A>C	ENSP00000506863.1:n.*3585A>C
ENST00000684418.1:n.5128A>C
ENST00000684433.1:n.331A>C
ENST00000684454.1:n.7811A>C
ENST00000684619.1:c.*3819A>C	ENSP00000508088.1:n.*3819A>C
ENST00000684743.1:n.6692A>C
ENST00000260665.12:c.3947A>C MANE Select	ENSP00000260665.7:p.Glu1316Ala
ENST00000260665.11:c.3947A>C	ENSP00000260665.7:p.Glu1316Ala
ENST00000419884.5:c.188A>C	ENSP00000414207.1:p.Glu63Ala
ENST00000463456.5:n.2990A>C
NM_133259.3:c.3947A>C	NP_573566.2:p.Glu1316Ala
XM_006711915.2:c.3869A>C	XP_006711978.1:p.Glu1290Ala
XM_011532473.1:c.3872A>C	XP_011530775.1:p.Glu1291Ala
XM_011532474.1:c.3947A>C	XP_011530776.1:p.Glu1316Ala
XM_017003117.1:c.3794A>C	XP_016858606.1:p.Glu1265Ala
XR_002958896.1:n.3989A>C
NM_133259.4:c.3947A>C MANE Select	NP_573566.2:p.Glu1316Ala