Canonical Allele Identifier: CA425909094
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44121697G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894558G>C , CM000664.2:g.43894558G>C GRCh38
NC_000002.11:g.44121697G>C , CM000664.1:g.44121697G>C GRCh37
NC_000002.10:g.43975201G>C NCBI36
NG_008247.1:g.106448C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.602C>G
ENST00000681993.1:n.1524C>G
ENST00000682154.1:n.1406C>G
ENST00000682303.1:c.*3683C>G ENSP00000508325.1:n.*3683C>G
ENST00000682308.1:c.3897C>G ENSP00000507056.1:p.Leu1299=
ENST00000682434.1:n.3527C>G
ENST00000682480.1:c.3990C>G ENSP00000508344.1:p.Leu1330=
ENST00000682546.1:c.3969C>G ENSP00000508188.1:p.Leu1323=
ENST00000682585.1:c.*100C>G ENSP00000506885.1:n.*100C>G
ENST00000682607.1:c.2715C>G
ENST00000682612.1:c.752+2076C>G
ENST00000682696.1:c.72C>G ENSP00000508411.1:p.Leu24=
ENST00000682779.1:c.3963C>G ENSP00000507947.1:p.Leu1321=
ENST00000682885.1:c.3927C>G ENSP00000508036.1:p.Leu1309=
ENST00000682933.1:n.4172C>G
ENST00000683002.1:c.824C>G
ENST00000683072.1:n.4556C>G
ENST00000683080.1:n.1591C>G
ENST00000683096.1:n.2413C>G
ENST00000683125.1:c.4080C>G ENSP00000507939.1:p.Leu1360=
ENST00000683213.1:c.3975C>G ENSP00000507751.1:p.Leu1325=
ENST00000683220.1:c.4002C>G ENSP00000507151.1:p.Leu1334=
ENST00000683329.1:n.4775C>G
ENST00000683346.1:c.*3847C>G ENSP00000507458.1:n.*3847C>G
ENST00000683409.1:n.2504C>G
ENST00000683459.1:n.4559C>G
ENST00000683590.1:c.3645C>G ENSP00000506820.1:p.Leu1215=
ENST00000683623.1:c.3879C>G ENSP00000507702.1:p.Leu1293=
ENST00000683796.1:c.*3769C>G ENSP00000508221.1:n.*3769C>G
ENST00000683833.1:c.3888C>G ENSP00000506852.1:p.Leu1296=
ENST00000683994.1:c.*85C>G ENSP00000507181.1:n.*85C>G
ENST00000684290.1:c.*1433C>G ENSP00000507243.1:n.*1433C>G
ENST00000684306.1:c.*3885C>G ENSP00000508384.1:n.*3885C>G
ENST00000684383.1:c.*3610C>G ENSP00000506863.1:n.*3610C>G
ENST00000684418.1:n.5153C>G
ENST00000684433.1:n.356C>G
ENST00000684454.1:n.7836C>G
ENST00000684619.1:c.*3844C>G ENSP00000508088.1:n.*3844C>G
ENST00000684743.1:n.6717C>G
ENST00000260665.12:c.3972C>G MANE Select ENSP00000260665.7:p.Leu1324=
ENST00000260665.11:c.3972C>G ENSP00000260665.7:p.Leu1324=
ENST00000419884.5:c.213C>G ENSP00000414207.1:p.Leu71=
ENST00000463456.5:n.3015C>G
NM_133259.3:c.3972C>G NP_573566.2:p.Leu1324=
XM_006711915.2:c.3894C>G XP_006711978.1:p.Leu1298=
XM_011532473.1:c.3897C>G XP_011530775.1:p.Leu1299=
XM_011532474.1:c.3972C>G XP_011530776.1:p.Leu1324=
XM_017003117.1:c.3819C>G XP_016858606.1:p.Leu1273=
XR_002958896.1:n.4014C>G
NM_133259.4:c.3972C>G MANE Select NP_573566.2:p.Leu1324=