Canonical Allele Identifier: CA346664929
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905715T>C , CM000664.2:g.43905715T>C GRCh38
NC_000002.11:g.44132854T>C , CM000664.1:g.44132854T>C GRCh37
NC_000002.10:g.43986358T>C NCBI36
NG_008247.1:g.95291A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.420A>G
ENST00000681993.1:n.893A>G
ENST00000682295.1:c.496A>G ENSP00000507499.1:n.496A>G
ENST00000682303.1:c.*3127A>G ENSP00000508325.1:n.*3127A>G
ENST00000682308.1:c.3341A>G ENSP00000507056.1:p.Gln1114Arg
ENST00000682480.1:c.3359A>G ENSP00000508344.1:p.Gln1120Arg
ENST00000682546.1:c.3338A>G ENSP00000508188.1:p.Gln1113Arg
ENST00000682585.1:c.3341A>G ENSP00000506885.1:p.Gln1114Arg
ENST00000682595.1:n.3925A>G
ENST00000682607.1:c.1759A>G
ENST00000682612.1:c.193A>G
ENST00000682779.1:c.3332A>G ENSP00000507947.1:p.Gln1111Arg
ENST00000682845.1:n.2443A>G
ENST00000682885.1:c.3296A>G ENSP00000508036.1:p.Gln1099Arg
ENST00000682933.1:n.3415A>G
ENST00000683002.1:c.193A>G
ENST00000683072.1:n.3925A>G
ENST00000683080.1:n.960A>G
ENST00000683125.1:c.3449A>G ENSP00000507939.1:p.Gln1150Arg
ENST00000683213.1:c.3344A>G ENSP00000507751.1:p.Gln1115Arg
ENST00000683220.1:c.3371A>G ENSP00000507151.1:p.Gln1124Arg
ENST00000683329.1:n.4144A>G
ENST00000683346.1:c.*3216A>G ENSP00000507458.1:n.*3216A>G
ENST00000683409.1:n.1948A>G
ENST00000683459.1:n.3928A>G
ENST00000683528.1:c.193A>G
ENST00000683590.1:c.3089A>G ENSP00000506820.1:p.Gln1030Arg
ENST00000683623.1:c.3248A>G ENSP00000507702.1:p.Gln1083Arg
ENST00000683645.1:n.3892A>G
ENST00000683796.1:c.*3213A>G ENSP00000508221.1:n.*3213A>G
ENST00000683802.1:n.6266A>G
ENST00000683833.1:c.3332A>G ENSP00000506852.1:p.Gln1111Arg
ENST00000683994.1:c.3341A>G ENSP00000507181.1:p.Gln1114Arg
ENST00000684290.1:c.*877A>G ENSP00000507243.1:n.*877A>G
ENST00000684306.1:c.*3254A>G ENSP00000508384.1:n.*3254A>G
ENST00000684341.1:n.3361A>G
ENST00000684383.1:c.*2979A>G ENSP00000506863.1:n.*2979A>G
ENST00000684418.1:n.4522A>G
ENST00000684454.1:n.2691A>G
ENST00000684619.1:c.*3213A>G ENSP00000508088.1:n.*3213A>G
ENST00000684743.1:n.4372A>G
ENST00000260665.12:c.3341A>G MANE Select ENSP00000260665.7:p.Gln1114Arg
ENST00000260665.11:c.3341A>G ENSP00000260665.7:p.Gln1114Arg
NM_133259.3:c.3341A>G NP_573566.2:p.Gln1114Arg
XM_006711915.2:c.3263A>G XP_006711978.1:p.Gln1088Arg
XM_011532473.1:c.3341A>G XP_011530775.1:p.Gln1114Arg
XM_011532474.1:c.3341A>G XP_011530776.1:p.Gln1114Arg
XM_017003117.1:c.3263A>G XP_016858606.1:p.Gln1088Arg
XR_002958896.1:n.3383A>G
NM_133259.4:c.3341A>G MANE Select NP_573566.2:p.Gln1114Arg