Canonical Allele Identifier: CA346678673
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43960547A>C , CM000664.2:g.43960547A>C GRCh38
NC_000002.11:g.44187686A>C , CM000664.1:g.44187686A>C GRCh37
NC_000002.10:g.44041190A>C NCBI36
NG_008247.1:g.40459T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000409659.6:c.1576T>G ENSP00000386562.2:p.Ser526Ala
ENST00000409946.6:c.1576T>G ENSP00000386234.1:p.Ser526Ala
ENST00000447246.2:c.1576T>G ENSP00000403637.2:p.Ser526Ala
ENST00000467058.2:n.305T>G
ENST00000681959.1:n.1190T>G
ENST00000681961.1:n.1596T>G
ENST00000682104.1:c.1450T>G ENSP00000507716.1:p.Ser484Ala
ENST00000682303.1:c.*1448T>G ENSP00000508325.1:n.*1448T>G
ENST00000682308.1:c.1576T>G ENSP00000507056.1:p.Ser526Ala
ENST00000682480.1:c.1576T>G ENSP00000508344.1:p.Ser526Ala
ENST00000682546.1:c.1576T>G ENSP00000508188.1:p.Ser526Ala
ENST00000682585.1:c.1576T>G ENSP00000506885.1:p.Ser526Ala
ENST00000682595.1:n.2158T>G
ENST00000682779.1:c.1567T>G ENSP00000507947.1:p.Ser523Ala
ENST00000682885.1:c.1576T>G ENSP00000508036.1:p.Ser526Ala
ENST00000683072.1:n.2158T>G
ENST00000683082.1:n.1594T>G
ENST00000683125.1:c.1576T>G ENSP00000507939.1:p.Ser526Ala
ENST00000683213.1:c.1579T>G ENSP00000507751.1:p.Ser527Ala
ENST00000683220.1:c.1576T>G ENSP00000507151.1:p.Ser526Ala
ENST00000683329.1:n.2379T>G
ENST00000683346.1:c.*1451T>G ENSP00000507458.1:n.*1451T>G
ENST00000683459.1:n.2163T>G
ENST00000683590.1:c.1576T>G ENSP00000506820.1:p.Ser526Ala
ENST00000683623.1:c.1576T>G ENSP00000507702.1:p.Ser526Ala
ENST00000683694.1:n.327T>G
ENST00000683796.1:c.*1448T>G ENSP00000508221.1:n.*1448T>G
ENST00000683802.1:n.1412T>G
ENST00000683833.1:c.1567T>G ENSP00000506852.1:p.Ser523Ala
ENST00000683934.1:c.1230T>G
ENST00000683989.1:c.1576T>G ENSP00000507510.1:p.Ser526Ala
ENST00000683994.1:c.1576T>G ENSP00000507181.1:p.Ser526Ala
ENST00000684290.1:c.1576T>G ENSP00000507243.1:p.Ser526Ala
ENST00000684306.1:c.*1489T>G ENSP00000508384.1:n.*1489T>G
ENST00000684341.1:n.1596T>G
ENST00000684383.1:c.*1214T>G ENSP00000506863.1:n.*1214T>G
ENST00000684482.1:c.1230T>G
ENST00000684619.1:c.*1448T>G ENSP00000508088.1:n.*1448T>G
ENST00000260665.12:c.1576T>G MANE Select ENSP00000260665.7:p.Ser526Ala
ENST00000260665.11:c.1576T>G ENSP00000260665.7:p.Ser526Ala
ENST00000409946.5:c.1576T>G ENSP00000386234.1:p.Ser526Ala
ENST00000467058.1:n.305T>G
NM_133259.3:c.1576T>G NP_573566.2:p.Ser526Ala
XM_006711915.2:c.1498T>G XP_006711978.1:p.Ser500Ala
XM_006711916.2:c.1576T>G XP_006711979.1:p.Ser526Ala
XM_011532473.1:c.1576T>G XP_011530775.1:p.Ser526Ala
XM_011532474.1:c.1576T>G XP_011530776.1:p.Ser526Ala
XM_006711916.3:c.1576T>G XP_006711979.1:p.Ser526Ala
XM_017003117.1:c.1498T>G XP_016858606.1:p.Ser500Ala
XR_002958896.1:n.1618T>G
NM_133259.4:c.1576T>G MANE Select NP_573566.2:p.Ser526Ala