Canonical Allele Identifier: CA346672673
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43943760C>G , CM000664.2:g.43943760C>G GRCh38
NC_000002.11:g.44170899C>G , CM000664.1:g.44170899C>G GRCh37
NC_000002.10:g.44024403C>G NCBI36
NG_008247.1:g.57246G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.2431G>C ENSP00000386562.2:p.Ala811Pro
ENST00000447246.2:c.2431G>C ENSP00000403637.2:p.Ala811Pro
ENST00000681961.1:n.2451G>C
ENST00000682104.1:c.2305G>C ENSP00000507716.1:p.Ala769Pro
ENST00000682303.1:c.*2217G>C ENSP00000508325.1:n.*2217G>C
ENST00000682308.1:c.2431G>C ENSP00000507056.1:p.Ala811Pro
ENST00000682480.1:c.2431G>C ENSP00000508344.1:p.Ala811Pro
ENST00000682546.1:c.2428G>C ENSP00000508188.1:p.Ala810Pro
ENST00000682585.1:c.2431G>C ENSP00000506885.1:p.Ala811Pro
ENST00000682595.1:n.3013G>C
ENST00000682607.1:c.849G>C
ENST00000682779.1:c.2422G>C ENSP00000507947.1:p.Ala808Pro
ENST00000682845.1:n.1533G>C
ENST00000682885.1:c.2386G>C ENSP00000508036.1:p.Ala796Pro
ENST00000682933.1:n.2505G>C
ENST00000683072.1:n.3013G>C
ENST00000683125.1:c.2431G>C ENSP00000507939.1:p.Ala811Pro
ENST00000683213.1:c.2434G>C ENSP00000507751.1:p.Ala812Pro
ENST00000683220.1:c.2461G>C ENSP00000507151.1:p.Ala821Pro
ENST00000683329.1:n.3234G>C
ENST00000683346.1:c.*2306G>C ENSP00000507458.1:n.*2306G>C
ENST00000683459.1:n.3018G>C
ENST00000683590.1:c.2431G>C ENSP00000506820.1:p.Ala811Pro
ENST00000683623.1:c.2338G>C ENSP00000507702.1:p.Ala780Pro
ENST00000683645.1:n.2982G>C
ENST00000683694.1:n.1182G>C
ENST00000683796.1:c.*2303G>C ENSP00000508221.1:n.*2303G>C
ENST00000683802.1:n.5356G>C
ENST00000683833.1:c.2422G>C ENSP00000506852.1:p.Ala808Pro
ENST00000683989.1:c.2431G>C ENSP00000507510.1:p.Ala811Pro
ENST00000683994.1:c.2431G>C ENSP00000507181.1:p.Ala811Pro
ENST00000684290.1:c.*125G>C ENSP00000507243.1:n.*125G>C
ENST00000684306.1:c.*2344G>C ENSP00000508384.1:n.*2344G>C
ENST00000684341.1:n.2451G>C
ENST00000684383.1:c.*2069G>C ENSP00000506863.1:n.*2069G>C
ENST00000684397.1:c.135G>C
ENST00000684619.1:c.*2303G>C ENSP00000508088.1:n.*2303G>C
ENST00000684743.1:n.3462G>C
ENST00000260665.12:c.2431G>C MANE Select ENSP00000260665.7:p.Ala811Pro
ENST00000260665.11:c.2431G>C ENSP00000260665.7:p.Ala811Pro
NM_133259.3:c.2431G>C NP_573566.2:p.Ala811Pro
XM_006711915.2:c.2353G>C XP_006711978.1:p.Ala785Pro
XM_006711916.2:c.2431G>C XP_006711979.1:p.Ala811Pro
XM_011532473.1:c.2431G>C XP_011530775.1:p.Ala811Pro
XM_011532474.1:c.2431G>C XP_011530776.1:p.Ala811Pro
XM_006711916.3:c.2431G>C XP_006711979.1:p.Ala811Pro
XM_017003117.1:c.2353G>C XP_016858606.1:p.Ala785Pro
XR_002958896.1:n.2473G>C
NM_133259.4:c.2431G>C MANE Select NP_573566.2:p.Ala811Pro