Canonical Allele Identifier: CA346674877

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1156308022
• gnomAD v2: 2-44121744-C-G
• gnomAD v4: 2-43894605-C-G
• MyVariant Identifiers: chr2:g.44121744C>G (hg19) ; chr2:g.43894605C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894605C>G , CM000664.2:g.43894605C>G	GRCh38
NC_000002.11:g.44121744C>G , CM000664.1:g.44121744C>G	GRCh37
NC_000002.10:g.43975248C>G	NCBI36
NG_008247.1:g.106401G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.555G>C
ENST00000681993.1:n.1477G>C
ENST00000682154.1:n.1359G>C
ENST00000682303.1:c.*3636G>C	ENSP00000508325.1:n.*3636G>C
ENST00000682308.1:c.3850G>C	ENSP00000507056.1:p.Glu1284Gln
ENST00000682434.1:n.3480G>C
ENST00000682480.1:c.3943G>C	ENSP00000508344.1:p.Glu1315Gln
ENST00000682546.1:c.3922G>C	ENSP00000508188.1:p.Glu1308Gln
ENST00000682585.1:c.*53G>C	ENSP00000506885.1:n.*53G>C
ENST00000682607.1:c.2668G>C
ENST00000682612.1:c.752+2029G>C
ENST00000682696.1:c.25G>C	ENSP00000508411.1:p.Glu9Gln
ENST00000682779.1:c.3916G>C	ENSP00000507947.1:p.Glu1306Gln
ENST00000682885.1:c.3880G>C	ENSP00000508036.1:p.Glu1294Gln
ENST00000682933.1:n.4125G>C
ENST00000683002.1:c.777G>C
ENST00000683072.1:n.4509G>C
ENST00000683080.1:n.1544G>C
ENST00000683096.1:n.2366G>C
ENST00000683125.1:c.4033G>C	ENSP00000507939.1:p.Glu1345Gln
ENST00000683213.1:c.3928G>C	ENSP00000507751.1:p.Glu1310Gln
ENST00000683220.1:c.3955G>C	ENSP00000507151.1:p.Glu1319Gln
ENST00000683329.1:n.4728G>C
ENST00000683346.1:c.*3800G>C	ENSP00000507458.1:n.*3800G>C
ENST00000683409.1:n.2457G>C
ENST00000683459.1:n.4512G>C
ENST00000683590.1:c.3598G>C	ENSP00000506820.1:p.Glu1200Gln
ENST00000683623.1:c.3832G>C	ENSP00000507702.1:p.Glu1278Gln
ENST00000683796.1:c.*3722G>C	ENSP00000508221.1:n.*3722G>C
ENST00000683833.1:c.3841G>C	ENSP00000506852.1:p.Glu1281Gln
ENST00000683994.1:c.*38G>C	ENSP00000507181.1:n.*38G>C
ENST00000684290.1:c.*1386G>C	ENSP00000507243.1:n.*1386G>C
ENST00000684306.1:c.*3838G>C	ENSP00000508384.1:n.*3838G>C
ENST00000684383.1:c.*3563G>C	ENSP00000506863.1:n.*3563G>C
ENST00000684418.1:n.5106G>C
ENST00000684433.1:n.309G>C
ENST00000684454.1:n.7789G>C
ENST00000684619.1:c.*3797G>C	ENSP00000508088.1:n.*3797G>C
ENST00000684743.1:n.6670G>C
ENST00000260665.12:c.3925G>C MANE Select	ENSP00000260665.7:p.Glu1309Gln
ENST00000260665.11:c.3925G>C	ENSP00000260665.7:p.Glu1309Gln
ENST00000419884.5:c.166G>C	ENSP00000414207.1:p.Glu56Gln
ENST00000463456.5:n.2968G>C
NM_133259.3:c.3925G>C	NP_573566.2:p.Glu1309Gln
XM_006711915.2:c.3847G>C	XP_006711978.1:p.Glu1283Gln
XM_011532473.1:c.3850G>C	XP_011530775.1:p.Glu1284Gln
XM_011532474.1:c.3925G>C	XP_011530776.1:p.Glu1309Gln
XM_017003117.1:c.3772G>C	XP_016858606.1:p.Glu1258Gln
XR_002958896.1:n.3967G>C
NM_133259.4:c.3925G>C MANE Select	NP_573566.2:p.Glu1309Gln