Canonical Allele Identifier: CA346665086
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905761C>G , CM000664.2:g.43905761C>G GRCh38
NC_000002.11:g.44132900C>G , CM000664.1:g.44132900C>G GRCh37
NC_000002.10:g.43986404C>G NCBI36
NG_008247.1:g.95245G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.374G>C
ENST00000681993.1:n.847G>C
ENST00000682295.1:c.450G>C ENSP00000507499.1:n.450G>C
ENST00000682303.1:c.*3081G>C ENSP00000508325.1:n.*3081G>C
ENST00000682308.1:c.3295G>C ENSP00000507056.1:p.Gly1099Arg
ENST00000682480.1:c.3313G>C ENSP00000508344.1:p.Gly1105Arg
ENST00000682546.1:c.3292G>C ENSP00000508188.1:p.Gly1098Arg
ENST00000682585.1:c.3295G>C ENSP00000506885.1:p.Gly1099Arg
ENST00000682595.1:n.3879G>C
ENST00000682607.1:c.1713G>C
ENST00000682612.1:c.147G>C
ENST00000682779.1:c.3286G>C ENSP00000507947.1:p.Gly1096Arg
ENST00000682845.1:n.2397G>C
ENST00000682885.1:c.3250G>C ENSP00000508036.1:p.Gly1084Arg
ENST00000682933.1:n.3369G>C
ENST00000683002.1:c.147G>C
ENST00000683072.1:n.3879G>C
ENST00000683080.1:n.914G>C
ENST00000683125.1:c.3403G>C ENSP00000507939.1:p.Gly1135Arg
ENST00000683213.1:c.3298G>C ENSP00000507751.1:p.Gly1100Arg
ENST00000683220.1:c.3325G>C ENSP00000507151.1:p.Gly1109Arg
ENST00000683329.1:n.4098G>C
ENST00000683346.1:c.*3170G>C ENSP00000507458.1:n.*3170G>C
ENST00000683409.1:n.1902G>C
ENST00000683459.1:n.3882G>C
ENST00000683528.1:c.147G>C
ENST00000683590.1:c.3043G>C ENSP00000506820.1:p.Gly1015Arg
ENST00000683623.1:c.3202G>C ENSP00000507702.1:p.Gly1068Arg
ENST00000683645.1:n.3846G>C
ENST00000683796.1:c.*3167G>C ENSP00000508221.1:n.*3167G>C
ENST00000683802.1:n.6220G>C
ENST00000683833.1:c.3286G>C ENSP00000506852.1:p.Gly1096Arg
ENST00000683994.1:c.3295G>C ENSP00000507181.1:p.Gly1099Arg
ENST00000684290.1:c.*831G>C ENSP00000507243.1:n.*831G>C
ENST00000684306.1:c.*3208G>C ENSP00000508384.1:n.*3208G>C
ENST00000684341.1:n.3315G>C
ENST00000684383.1:c.*2933G>C ENSP00000506863.1:n.*2933G>C
ENST00000684418.1:n.4476G>C
ENST00000684454.1:n.2645G>C
ENST00000684619.1:c.*3167G>C ENSP00000508088.1:n.*3167G>C
ENST00000684743.1:n.4326G>C
ENST00000260665.12:c.3295G>C MANE Select ENSP00000260665.7:p.Gly1099Arg
ENST00000260665.11:c.3295G>C ENSP00000260665.7:p.Gly1099Arg
NM_133259.3:c.3295G>C NP_573566.2:p.Gly1099Arg
XM_006711915.2:c.3217G>C XP_006711978.1:p.Gly1073Arg
XM_011532473.1:c.3295G>C XP_011530775.1:p.Gly1099Arg
XM_011532474.1:c.3295G>C XP_011530776.1:p.Gly1099Arg
XM_017003117.1:c.3217G>C XP_016858606.1:p.Gly1073Arg
XR_002958896.1:n.3337G>C
NM_133259.4:c.3295G>C MANE Select NP_573566.2:p.Gly1099Arg