Canonical Allele Identifier: CA346668226
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43918102T>C , CM000664.2:g.43918102T>C GRCh38
NC_000002.11:g.44145241T>C , CM000664.1:g.44145241T>C GRCh37
NC_000002.10:g.43998745T>C NCBI36
NG_008247.1:g.82904A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000681993.1:n.623A>G
ENST00000682295.1:c.303+154A>G ENSP00000507499.1:n.303+154A>G
ENST00000682303.1:c.*2857A>G ENSP00000508325.1:n.*2857A>G
ENST00000682308.1:c.3071A>G ENSP00000507056.1:p.Asn1024Ser
ENST00000682480.1:c.3089A>G ENSP00000508344.1:p.Asn1030Ser
ENST00000682546.1:c.3068A>G ENSP00000508188.1:p.Asn1023Ser
ENST00000682585.1:c.3071A>G ENSP00000506885.1:p.Asn1024Ser
ENST00000682595.1:n.3655A>G
ENST00000682607.1:c.1489A>G
ENST00000682779.1:c.3062A>G ENSP00000507947.1:p.Asn1021Ser
ENST00000682845.1:n.2173A>G
ENST00000682885.1:c.3026A>G ENSP00000508036.1:p.Asn1009Ser
ENST00000682933.1:n.3145A>G
ENST00000683072.1:n.3655A>G
ENST00000683080.1:n.690A>G
ENST00000683125.1:c.3179A>G ENSP00000507939.1:p.Asn1060Ser
ENST00000683213.1:c.3074A>G ENSP00000507751.1:p.Asn1025Ser
ENST00000683220.1:c.3101A>G ENSP00000507151.1:p.Asn1034Ser
ENST00000683329.1:n.3874A>G
ENST00000683346.1:c.*2946A>G ENSP00000507458.1:n.*2946A>G
ENST00000683409.1:n.1678A>G
ENST00000683459.1:n.3658A>G
ENST00000683590.1:c.2897-5544A>G ENSP00000506820.1:n.2897-5544A>G
ENST00000683623.1:c.2978A>G ENSP00000507702.1:p.Asn993Ser
ENST00000683645.1:n.3622A>G
ENST00000683796.1:c.*2943A>G ENSP00000508221.1:n.*2943A>G
ENST00000683802.1:n.5996A>G
ENST00000683833.1:c.3062A>G ENSP00000506852.1:p.Asn1021Ser
ENST00000683994.1:c.3071A>G ENSP00000507181.1:p.Asn1024Ser
ENST00000684290.1:c.*607A>G ENSP00000507243.1:n.*607A>G
ENST00000684306.1:c.*2984A>G ENSP00000508384.1:n.*2984A>G
ENST00000684341.1:n.3091A>G
ENST00000684383.1:c.*2709A>G ENSP00000506863.1:n.*2709A>G
ENST00000684619.1:c.*2943A>G ENSP00000508088.1:n.*2943A>G
ENST00000684705.1:n.192A>G
ENST00000684743.1:n.4102A>G
ENST00000260665.12:c.3071A>G MANE Select ENSP00000260665.7:p.Asn1024Ser
ENST00000260665.11:c.3071A>G ENSP00000260665.7:p.Asn1024Ser
NM_133259.3:c.3071A>G NP_573566.2:p.Asn1024Ser
XM_006711915.2:c.2993A>G XP_006711978.1:p.Asn998Ser
XM_006711916.2:c.3071A>G XP_006711979.1:p.Asn1024Ser
XM_011532473.1:c.3071A>G XP_011530775.1:p.Asn1024Ser
XM_011532474.1:c.3071A>G XP_011530776.1:p.Asn1024Ser
XM_006711916.3:c.3071A>G XP_006711979.1:p.Asn1024Ser
XM_017003117.1:c.2993A>G XP_016858606.1:p.Asn998Ser
XR_002958896.1:n.3113A>G
NM_133259.4:c.3071A>G MANE Select NP_573566.2:p.Asn1024Ser