Canonical Allele Identifier: CA346674838

Gene: LRPPRC

Linked Data

• COSMIC: COSM442926
• MyVariant Identifiers: chr2:g.44121732C>G (hg19) ; chr2:g.43894593C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894593C>G , CM000664.2:g.43894593C>G	GRCh38
NC_000002.11:g.44121732C>G , CM000664.1:g.44121732C>G	GRCh37
NC_000002.10:g.43975236C>G	NCBI36
NG_008247.1:g.106413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.567G>C
ENST00000681993.1:n.1489G>C
ENST00000682154.1:n.1371G>C
ENST00000682303.1:c.*3648G>C	ENSP00000508325.1:n.*3648G>C
ENST00000682308.1:c.3862G>C	ENSP00000507056.1:p.Glu1288Gln
ENST00000682434.1:n.3492G>C
ENST00000682480.1:c.3955G>C	ENSP00000508344.1:p.Glu1319Gln
ENST00000682546.1:c.3934G>C	ENSP00000508188.1:p.Glu1312Gln
ENST00000682585.1:c.*65G>C	ENSP00000506885.1:n.*65G>C
ENST00000682607.1:c.2680G>C
ENST00000682612.1:c.752+2041G>C
ENST00000682696.1:c.37G>C	ENSP00000508411.1:p.Glu13Gln
ENST00000682779.1:c.3928G>C	ENSP00000507947.1:p.Glu1310Gln
ENST00000682885.1:c.3892G>C	ENSP00000508036.1:p.Glu1298Gln
ENST00000682933.1:n.4137G>C
ENST00000683002.1:c.789G>C
ENST00000683072.1:n.4521G>C
ENST00000683080.1:n.1556G>C
ENST00000683096.1:n.2378G>C
ENST00000683125.1:c.4045G>C	ENSP00000507939.1:p.Glu1349Gln
ENST00000683213.1:c.3940G>C	ENSP00000507751.1:p.Glu1314Gln
ENST00000683220.1:c.3967G>C	ENSP00000507151.1:p.Glu1323Gln
ENST00000683329.1:n.4740G>C
ENST00000683346.1:c.*3812G>C	ENSP00000507458.1:n.*3812G>C
ENST00000683409.1:n.2469G>C
ENST00000683459.1:n.4524G>C
ENST00000683590.1:c.3610G>C	ENSP00000506820.1:p.Glu1204Gln
ENST00000683623.1:c.3844G>C	ENSP00000507702.1:p.Glu1282Gln
ENST00000683796.1:c.*3734G>C	ENSP00000508221.1:n.*3734G>C
ENST00000683833.1:c.3853G>C	ENSP00000506852.1:p.Glu1285Gln
ENST00000683994.1:c.*50G>C	ENSP00000507181.1:n.*50G>C
ENST00000684290.1:c.*1398G>C	ENSP00000507243.1:n.*1398G>C
ENST00000684306.1:c.*3850G>C	ENSP00000508384.1:n.*3850G>C
ENST00000684383.1:c.*3575G>C	ENSP00000506863.1:n.*3575G>C
ENST00000684418.1:n.5118G>C
ENST00000684433.1:n.321G>C
ENST00000684454.1:n.7801G>C
ENST00000684619.1:c.*3809G>C	ENSP00000508088.1:n.*3809G>C
ENST00000684743.1:n.6682G>C
ENST00000260665.12:c.3937G>C MANE Select	ENSP00000260665.7:p.Glu1313Gln
ENST00000260665.11:c.3937G>C	ENSP00000260665.7:p.Glu1313Gln
ENST00000419884.5:c.178G>C	ENSP00000414207.1:p.Glu60Gln
ENST00000463456.5:n.2980G>C
NM_133259.3:c.3937G>C	NP_573566.2:p.Glu1313Gln
XM_006711915.2:c.3859G>C	XP_006711978.1:p.Glu1287Gln
XM_011532473.1:c.3862G>C	XP_011530775.1:p.Glu1288Gln
XM_011532474.1:c.3937G>C	XP_011530776.1:p.Glu1313Gln
XM_017003117.1:c.3784G>C	XP_016858606.1:p.Glu1262Gln
XR_002958896.1:n.3979G>C
NM_133259.4:c.3937G>C MANE Select	NP_573566.2:p.Glu1313Gln