Canonical Allele Identifier: CA346674875

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44121744C>A (hg19) ; chr2:g.43894605C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.555G>T
ENST00000681993.1:n.1477G>T
ENST00000682154.1:n.1359G>T
ENST00000682303.1:c.*3636G>T	ENSP00000508325.1:n.*3636G>T
ENST00000682308.1:c.3850G>T	ENSP00000507056.1:p.Glu1284Ter
ENST00000682434.1:n.3480G>T
ENST00000682480.1:c.3943G>T	ENSP00000508344.1:p.Glu1315Ter
ENST00000682546.1:c.3922G>T	ENSP00000508188.1:p.Glu1308Ter
ENST00000682585.1:c.*53G>T	ENSP00000506885.1:n.*53G>T
ENST00000682607.1:c.2668G>T
ENST00000682612.1:c.752+2029G>T
ENST00000682696.1:c.25G>T	ENSP00000508411.1:p.Glu9Ter
ENST00000682779.1:c.3916G>T	ENSP00000507947.1:p.Glu1306Ter
ENST00000682885.1:c.3880G>T	ENSP00000508036.1:p.Glu1294Ter
ENST00000682933.1:n.4125G>T
ENST00000683002.1:c.777G>T
ENST00000683072.1:n.4509G>T
ENST00000683080.1:n.1544G>T
ENST00000683096.1:n.2366G>T
ENST00000683125.1:c.4033G>T	ENSP00000507939.1:p.Glu1345Ter
ENST00000683213.1:c.3928G>T	ENSP00000507751.1:p.Glu1310Ter
ENST00000683220.1:c.3955G>T	ENSP00000507151.1:p.Glu1319Ter
ENST00000683329.1:n.4728G>T
ENST00000683346.1:c.*3800G>T	ENSP00000507458.1:n.*3800G>T
ENST00000683409.1:n.2457G>T
ENST00000683459.1:n.4512G>T
ENST00000683590.1:c.3598G>T	ENSP00000506820.1:p.Glu1200Ter
ENST00000683623.1:c.3832G>T	ENSP00000507702.1:p.Glu1278Ter
ENST00000683796.1:c.*3722G>T	ENSP00000508221.1:n.*3722G>T
ENST00000683833.1:c.3841G>T	ENSP00000506852.1:p.Glu1281Ter
ENST00000683994.1:c.*38G>T	ENSP00000507181.1:n.*38G>T
ENST00000684290.1:c.*1386G>T	ENSP00000507243.1:n.*1386G>T
ENST00000684306.1:c.*3838G>T	ENSP00000508384.1:n.*3838G>T
ENST00000684383.1:c.*3563G>T	ENSP00000506863.1:n.*3563G>T
ENST00000684418.1:n.5106G>T
ENST00000684433.1:n.309G>T
ENST00000684454.1:n.7789G>T
ENST00000684619.1:c.*3797G>T	ENSP00000508088.1:n.*3797G>T
ENST00000684743.1:n.6670G>T
ENST00000260665.12:c.3925G>T MANE Select	ENSP00000260665.7:p.Glu1309Ter
ENST00000260665.11:c.3925G>T	ENSP00000260665.7:p.Glu1309Ter
ENST00000419884.5:c.166G>T	ENSP00000414207.1:p.Glu56Ter
ENST00000463456.5:n.2968G>T
NM_133259.3:c.3925G>T	NP_573566.2:p.Glu1309Ter
XM_006711915.2:c.3847G>T	XP_006711978.1:p.Glu1283Ter
XM_011532473.1:c.3850G>T	XP_011530775.1:p.Glu1284Ter
XM_011532474.1:c.3925G>T	XP_011530776.1:p.Glu1309Ter
XM_017003117.1:c.3772G>T	XP_016858606.1:p.Glu1258Ter
XR_002958896.1:n.3967G>T
NM_133259.4:c.3925G>T MANE Select	NP_573566.2:p.Glu1309Ter