Canonical Allele Identifier: CA346674783
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894571G>C , CM000664.2:g.43894571G>C GRCh38
NC_000002.11:g.44121710G>C , CM000664.1:g.44121710G>C GRCh37
NC_000002.10:g.43975214G>C NCBI36
NG_008247.1:g.106435C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.589C>G
ENST00000681993.1:n.1511C>G
ENST00000682154.1:n.1393C>G
ENST00000682303.1:c.*3670C>G ENSP00000508325.1:n.*3670C>G
ENST00000682308.1:c.3884C>G ENSP00000507056.1:p.Ala1295Gly
ENST00000682434.1:n.3514C>G
ENST00000682480.1:c.3977C>G ENSP00000508344.1:p.Ala1326Gly
ENST00000682546.1:c.3956C>G ENSP00000508188.1:p.Ala1319Gly
ENST00000682585.1:c.*87C>G ENSP00000506885.1:n.*87C>G
ENST00000682607.1:c.2702C>G
ENST00000682612.1:c.752+2063C>G
ENST00000682696.1:c.59C>G ENSP00000508411.1:p.Ala20Gly
ENST00000682779.1:c.3950C>G ENSP00000507947.1:p.Ala1317Gly
ENST00000682885.1:c.3914C>G ENSP00000508036.1:p.Ala1305Gly
ENST00000682933.1:n.4159C>G
ENST00000683002.1:c.811C>G
ENST00000683072.1:n.4543C>G
ENST00000683080.1:n.1578C>G
ENST00000683096.1:n.2400C>G
ENST00000683125.1:c.4067C>G ENSP00000507939.1:p.Ala1356Gly
ENST00000683213.1:c.3962C>G ENSP00000507751.1:p.Ala1321Gly
ENST00000683220.1:c.3989C>G ENSP00000507151.1:p.Ala1330Gly
ENST00000683329.1:n.4762C>G
ENST00000683346.1:c.*3834C>G ENSP00000507458.1:n.*3834C>G
ENST00000683409.1:n.2491C>G
ENST00000683459.1:n.4546C>G
ENST00000683590.1:c.3632C>G ENSP00000506820.1:p.Ala1211Gly
ENST00000683623.1:c.3866C>G ENSP00000507702.1:p.Ala1289Gly
ENST00000683796.1:c.*3756C>G ENSP00000508221.1:n.*3756C>G
ENST00000683833.1:c.3875C>G ENSP00000506852.1:p.Ala1292Gly
ENST00000683994.1:c.*72C>G ENSP00000507181.1:n.*72C>G
ENST00000684290.1:c.*1420C>G ENSP00000507243.1:n.*1420C>G
ENST00000684306.1:c.*3872C>G ENSP00000508384.1:n.*3872C>G
ENST00000684383.1:c.*3597C>G ENSP00000506863.1:n.*3597C>G
ENST00000684418.1:n.5140C>G
ENST00000684433.1:n.343C>G
ENST00000684454.1:n.7823C>G
ENST00000684619.1:c.*3831C>G ENSP00000508088.1:n.*3831C>G
ENST00000684743.1:n.6704C>G
ENST00000260665.12:c.3959C>G MANE Select ENSP00000260665.7:p.Ala1320Gly
ENST00000260665.11:c.3959C>G ENSP00000260665.7:p.Ala1320Gly
ENST00000419884.5:c.200C>G ENSP00000414207.1:p.Ala67Gly
ENST00000463456.5:n.3002C>G
NM_133259.3:c.3959C>G NP_573566.2:p.Ala1320Gly
XM_006711915.2:c.3881C>G XP_006711978.1:p.Ala1294Gly
XM_011532473.1:c.3884C>G XP_011530775.1:p.Ala1295Gly
XM_011532474.1:c.3959C>G XP_011530776.1:p.Ala1320Gly
XM_017003117.1:c.3806C>G XP_016858606.1:p.Ala1269Gly
XR_002958896.1:n.4001C>G
NM_133259.4:c.3959C>G MANE Select NP_573566.2:p.Ala1320Gly