Canonical Allele Identifier: CA425909273
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126406A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899267A>C , CM000664.2:g.43899267A>C GRCh38
NC_000002.11:g.44126406A>C , CM000664.1:g.44126406A>C GRCh37
NC_000002.10:g.43979910A>C NCBI36
NG_008247.1:g.101739T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.208T>G
ENST00000472420.6:n.856T>G
ENST00000483489.2:n.208T>G
ENST00000681993.1:n.1329T>G
ENST00000682303.1:c.*3563T>G ENSP00000508325.1:n.*3563T>G
ENST00000682308.1:c.3777T>G ENSP00000507056.1:p.Leu1259=
ENST00000682434.1:n.1328T>G
ENST00000682480.1:c.3795T>G ENSP00000508344.1:p.Leu1265=
ENST00000682546.1:c.3774T>G ENSP00000508188.1:p.Leu1258=
ENST00000682585.1:c.3777T>G ENSP00000506885.1:p.Leu1259=
ENST00000682595.1:n.4361T>G
ENST00000682607.1:c.2195T>G
ENST00000682612.1:c.629T>G
ENST00000682779.1:c.3768T>G ENSP00000507947.1:p.Leu1256=
ENST00000682845.1:n.2879T>G
ENST00000682885.1:c.3732T>G ENSP00000508036.1:p.Leu1244=
ENST00000682933.1:n.3851T>G
ENST00000683002.1:c.629T>G
ENST00000683072.1:n.4361T>G
ENST00000683080.1:n.1396T>G
ENST00000683125.1:c.3885T>G ENSP00000507939.1:p.Leu1295=
ENST00000683213.1:c.3780T>G ENSP00000507751.1:p.Leu1260=
ENST00000683220.1:c.3807T>G ENSP00000507151.1:p.Leu1269=
ENST00000683329.1:n.4580T>G
ENST00000683346.1:c.*3652T>G ENSP00000507458.1:n.*3652T>G
ENST00000683409.1:n.2384T>G
ENST00000683459.1:n.4364T>G
ENST00000683528.1:c.705T>G
ENST00000683590.1:c.3525T>G ENSP00000506820.1:p.Leu1175=
ENST00000683623.1:c.3684T>G ENSP00000507702.1:p.Leu1228=
ENST00000683645.1:n.4328T>G
ENST00000683796.1:c.*3649T>G ENSP00000508221.1:n.*3649T>G
ENST00000683802.1:n.6702T>G
ENST00000683833.1:c.3768T>G ENSP00000506852.1:p.Leu1256=
ENST00000683994.1:c.3777T>G ENSP00000507181.1:p.Leu1259=
ENST00000684290.1:c.*1313T>G ENSP00000507243.1:n.*1313T>G
ENST00000684306.1:c.*3690T>G ENSP00000508384.1:n.*3690T>G
ENST00000684341.1:n.3797T>G
ENST00000684383.1:c.*3415T>G ENSP00000506863.1:n.*3415T>G
ENST00000684418.1:n.4958T>G
ENST00000684433.1:n.161T>G
ENST00000684454.1:n.3127T>G
ENST00000684619.1:c.*3649T>G ENSP00000508088.1:n.*3649T>G
ENST00000684743.1:n.6522T>G
ENST00000260665.12:c.3777T>G MANE Select ENSP00000260665.7:p.Leu1259=
ENST00000260665.11:c.3777T>G ENSP00000260665.7:p.Leu1259=
ENST00000419884.5:c.18T>G ENSP00000414207.1:p.Leu6=
ENST00000463456.5:n.2820T>G
ENST00000472420.5:n.174T>G
ENST00000483489.1:n.251T>G
NM_133259.3:c.3777T>G NP_573566.2:p.Leu1259=
XM_006711915.2:c.3699T>G XP_006711978.1:p.Leu1233=
XM_011532473.1:c.3777T>G XP_011530775.1:p.Leu1259=
XM_011532474.1:c.3777T>G XP_011530776.1:p.Leu1259=
XM_017003117.1:c.3699T>G XP_016858606.1:p.Leu1233=
XR_002958896.1:n.3819T>G
NM_133259.4:c.3777T>G MANE Select NP_573566.2:p.Leu1259=