Canonical Allele Identifier: CA425909119
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44121742T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894603T>C , CM000664.2:g.43894603T>C GRCh38
NC_000002.11:g.44121742T>C , CM000664.1:g.44121742T>C GRCh37
NC_000002.10:g.43975246T>C NCBI36
NG_008247.1:g.106403A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.557A>G
ENST00000681993.1:n.1479A>G
ENST00000682154.1:n.1361A>G
ENST00000682303.1:c.*3638A>G ENSP00000508325.1:n.*3638A>G
ENST00000682308.1:c.3852A>G ENSP00000507056.1:p.Glu1284=
ENST00000682434.1:n.3482A>G
ENST00000682480.1:c.3945A>G ENSP00000508344.1:p.Glu1315=
ENST00000682546.1:c.3924A>G ENSP00000508188.1:p.Glu1308=
ENST00000682585.1:c.*55A>G ENSP00000506885.1:n.*55A>G
ENST00000682607.1:c.2670A>G
ENST00000682612.1:c.752+2031A>G
ENST00000682696.1:c.27A>G ENSP00000508411.1:p.Glu9=
ENST00000682779.1:c.3918A>G ENSP00000507947.1:p.Glu1306=
ENST00000682885.1:c.3882A>G ENSP00000508036.1:p.Glu1294=
ENST00000682933.1:n.4127A>G
ENST00000683002.1:c.779A>G
ENST00000683072.1:n.4511A>G
ENST00000683080.1:n.1546A>G
ENST00000683096.1:n.2368A>G
ENST00000683125.1:c.4035A>G ENSP00000507939.1:p.Glu1345=
ENST00000683213.1:c.3930A>G ENSP00000507751.1:p.Glu1310=
ENST00000683220.1:c.3957A>G ENSP00000507151.1:p.Glu1319=
ENST00000683329.1:n.4730A>G
ENST00000683346.1:c.*3802A>G ENSP00000507458.1:n.*3802A>G
ENST00000683409.1:n.2459A>G
ENST00000683459.1:n.4514A>G
ENST00000683590.1:c.3600A>G ENSP00000506820.1:p.Glu1200=
ENST00000683623.1:c.3834A>G ENSP00000507702.1:p.Glu1278=
ENST00000683796.1:c.*3724A>G ENSP00000508221.1:n.*3724A>G
ENST00000683833.1:c.3843A>G ENSP00000506852.1:p.Glu1281=
ENST00000683994.1:c.*40A>G ENSP00000507181.1:n.*40A>G
ENST00000684290.1:c.*1388A>G ENSP00000507243.1:n.*1388A>G
ENST00000684306.1:c.*3840A>G ENSP00000508384.1:n.*3840A>G
ENST00000684383.1:c.*3565A>G ENSP00000506863.1:n.*3565A>G
ENST00000684418.1:n.5108A>G
ENST00000684433.1:n.311A>G
ENST00000684454.1:n.7791A>G
ENST00000684619.1:c.*3799A>G ENSP00000508088.1:n.*3799A>G
ENST00000684743.1:n.6672A>G
ENST00000260665.12:c.3927A>G MANE Select ENSP00000260665.7:p.Glu1309=
ENST00000260665.11:c.3927A>G ENSP00000260665.7:p.Glu1309=
ENST00000419884.5:c.168A>G ENSP00000414207.1:p.Glu56=
ENST00000463456.5:n.2970A>G
NM_133259.3:c.3927A>G NP_573566.2:p.Glu1309=
XM_006711915.2:c.3849A>G XP_006711978.1:p.Glu1283=
XM_011532473.1:c.3852A>G XP_011530775.1:p.Glu1284=
XM_011532474.1:c.3927A>G XP_011530776.1:p.Glu1309=
XM_017003117.1:c.3774A>G XP_016858606.1:p.Glu1258=
XR_002958896.1:n.3969A>G
NM_133259.4:c.3927A>G MANE Select NP_573566.2:p.Glu1309=