Canonical Allele Identifier: CA346664835
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905694T>C , CM000664.2:g.43905694T>C GRCh38
NC_000002.11:g.44132833T>C , CM000664.1:g.44132833T>C GRCh37
NC_000002.10:g.43986337T>C NCBI36
NG_008247.1:g.95312A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000472420.6:n.441A>G
ENST00000681993.1:n.914A>G
ENST00000682295.1:c.517A>G ENSP00000507499.1:n.517A>G
ENST00000682303.1:c.*3148A>G ENSP00000508325.1:n.*3148A>G
ENST00000682308.1:c.3362A>G ENSP00000507056.1:p.Lys1121Arg
ENST00000682480.1:c.3380A>G ENSP00000508344.1:p.Lys1127Arg
ENST00000682546.1:c.3359A>G ENSP00000508188.1:p.Lys1120Arg
ENST00000682585.1:c.3362A>G ENSP00000506885.1:p.Lys1121Arg
ENST00000682595.1:n.3946A>G
ENST00000682607.1:c.1780A>G
ENST00000682612.1:c.214A>G
ENST00000682779.1:c.3353A>G ENSP00000507947.1:p.Lys1118Arg
ENST00000682845.1:n.2464A>G
ENST00000682885.1:c.3317A>G ENSP00000508036.1:p.Lys1106Arg
ENST00000682933.1:n.3436A>G
ENST00000683002.1:c.214A>G
ENST00000683072.1:n.3946A>G
ENST00000683080.1:n.981A>G
ENST00000683125.1:c.3470A>G ENSP00000507939.1:p.Lys1157Arg
ENST00000683213.1:c.3365A>G ENSP00000507751.1:p.Lys1122Arg
ENST00000683220.1:c.3392A>G ENSP00000507151.1:p.Lys1131Arg
ENST00000683329.1:n.4165A>G
ENST00000683346.1:c.*3237A>G ENSP00000507458.1:n.*3237A>G
ENST00000683409.1:n.1969A>G
ENST00000683459.1:n.3949A>G
ENST00000683528.1:c.214A>G
ENST00000683590.1:c.3110A>G ENSP00000506820.1:p.Lys1037Arg
ENST00000683623.1:c.3269A>G ENSP00000507702.1:p.Lys1090Arg
ENST00000683645.1:n.3913A>G
ENST00000683796.1:c.*3234A>G ENSP00000508221.1:n.*3234A>G
ENST00000683802.1:n.6287A>G
ENST00000683833.1:c.3353A>G ENSP00000506852.1:p.Lys1118Arg
ENST00000683994.1:c.3362A>G ENSP00000507181.1:p.Lys1121Arg
ENST00000684290.1:c.*898A>G ENSP00000507243.1:n.*898A>G
ENST00000684306.1:c.*3275A>G ENSP00000508384.1:n.*3275A>G
ENST00000684341.1:n.3382A>G
ENST00000684383.1:c.*3000A>G ENSP00000506863.1:n.*3000A>G
ENST00000684418.1:n.4543A>G
ENST00000684454.1:n.2712A>G
ENST00000684619.1:c.*3234A>G ENSP00000508088.1:n.*3234A>G
ENST00000684743.1:n.4393A>G
ENST00000260665.12:c.3362A>G MANE Select ENSP00000260665.7:p.Lys1121Arg
ENST00000260665.11:c.3362A>G ENSP00000260665.7:p.Lys1121Arg
NM_133259.3:c.3362A>G NP_573566.2:p.Lys1121Arg
XM_006711915.2:c.3284A>G XP_006711978.1:p.Lys1095Arg
XM_011532473.1:c.3362A>G XP_011530775.1:p.Lys1121Arg
XM_011532474.1:c.3362A>G XP_011530776.1:p.Lys1121Arg
XM_017003117.1:c.3284A>G XP_016858606.1:p.Lys1095Arg
XR_002958896.1:n.3404A>G
NM_133259.4:c.3362A>G MANE Select NP_573566.2:p.Lys1121Arg