Canonical Allele Identifier: CA425909284
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126424A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899285A>C , CM000664.2:g.43899285A>C GRCh38
NC_000002.11:g.44126424A>C , CM000664.1:g.44126424A>C GRCh37
NC_000002.10:g.43979928A>C NCBI36
NG_008247.1:g.101721T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.190T>G
ENST00000472420.6:n.838T>G
ENST00000483489.2:n.190T>G
ENST00000681993.1:n.1311T>G
ENST00000682303.1:c.*3545T>G ENSP00000508325.1:n.*3545T>G
ENST00000682308.1:c.3759T>G ENSP00000507056.1:p.Pro1253=
ENST00000682434.1:n.1310T>G
ENST00000682480.1:c.3777T>G ENSP00000508344.1:p.Pro1259=
ENST00000682546.1:c.3756T>G ENSP00000508188.1:p.Pro1252=
ENST00000682585.1:c.3759T>G ENSP00000506885.1:p.Pro1253=
ENST00000682595.1:n.4343T>G
ENST00000682607.1:c.2177T>G
ENST00000682612.1:c.611T>G
ENST00000682779.1:c.3750T>G ENSP00000507947.1:p.Pro1250=
ENST00000682845.1:n.2861T>G
ENST00000682885.1:c.3714T>G ENSP00000508036.1:p.Pro1238=
ENST00000682933.1:n.3833T>G
ENST00000683002.1:c.611T>G
ENST00000683072.1:n.4343T>G
ENST00000683080.1:n.1378T>G
ENST00000683125.1:c.3867T>G ENSP00000507939.1:p.Pro1289=
ENST00000683213.1:c.3762T>G ENSP00000507751.1:p.Pro1254=
ENST00000683220.1:c.3789T>G ENSP00000507151.1:p.Pro1263=
ENST00000683329.1:n.4562T>G
ENST00000683346.1:c.*3634T>G ENSP00000507458.1:n.*3634T>G
ENST00000683409.1:n.2366T>G
ENST00000683459.1:n.4346T>G
ENST00000683528.1:c.687T>G
ENST00000683590.1:c.3507T>G ENSP00000506820.1:p.Pro1169=
ENST00000683623.1:c.3666T>G ENSP00000507702.1:p.Pro1222=
ENST00000683645.1:n.4310T>G
ENST00000683796.1:c.*3631T>G ENSP00000508221.1:n.*3631T>G
ENST00000683802.1:n.6684T>G
ENST00000683833.1:c.3750T>G ENSP00000506852.1:p.Pro1250=
ENST00000683994.1:c.3759T>G ENSP00000507181.1:p.Pro1253=
ENST00000684290.1:c.*1295T>G ENSP00000507243.1:n.*1295T>G
ENST00000684306.1:c.*3672T>G ENSP00000508384.1:n.*3672T>G
ENST00000684341.1:n.3779T>G
ENST00000684383.1:c.*3397T>G ENSP00000506863.1:n.*3397T>G
ENST00000684418.1:n.4940T>G
ENST00000684433.1:n.143T>G
ENST00000684454.1:n.3109T>G
ENST00000684619.1:c.*3631T>G ENSP00000508088.1:n.*3631T>G
ENST00000684743.1:n.6504T>G
ENST00000260665.12:c.3759T>G MANE Select ENSP00000260665.7:p.Pro1253=
ENST00000260665.11:c.3759T>G ENSP00000260665.7:p.Pro1253=
ENST00000463456.5:n.2802T>G
ENST00000472420.5:n.156T>G
ENST00000483489.1:n.233T>G
NM_133259.3:c.3759T>G NP_573566.2:p.Pro1253=
XM_006711915.2:c.3681T>G XP_006711978.1:p.Pro1227=
XM_011532473.1:c.3759T>G XP_011530775.1:p.Pro1253=
XM_011532474.1:c.3759T>G XP_011530776.1:p.Pro1253=
XM_017003117.1:c.3681T>G XP_016858606.1:p.Pro1227=
XR_002958896.1:n.3801T>G
NM_133259.4:c.3759T>G MANE Select NP_573566.2:p.Pro1253=