Canonical Allele Identifier: CA425909299
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44126457C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43899318C>T , CM000664.2:g.43899318C>T GRCh38
NC_000002.11:g.44126457C>T , CM000664.1:g.44126457C>T GRCh37
NC_000002.10:g.43979961C>T NCBI36
NG_008247.1:g.101688G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.157G>A
ENST00000472420.6:n.805G>A
ENST00000483489.2:n.157G>A
ENST00000681993.1:n.1278G>A
ENST00000682303.1:c.*3512G>A ENSP00000508325.1:n.*3512G>A
ENST00000682308.1:c.3726G>A ENSP00000507056.1:p.Glu1242=
ENST00000682434.1:n.1277G>A
ENST00000682480.1:c.3744G>A ENSP00000508344.1:p.Glu1248=
ENST00000682546.1:c.3723G>A ENSP00000508188.1:p.Glu1241=
ENST00000682585.1:c.3726G>A ENSP00000506885.1:p.Glu1242=
ENST00000682595.1:n.4310G>A
ENST00000682607.1:c.2144G>A
ENST00000682612.1:c.578G>A
ENST00000682779.1:c.3717G>A ENSP00000507947.1:p.Glu1239=
ENST00000682845.1:n.2828G>A
ENST00000682885.1:c.3681G>A ENSP00000508036.1:p.Glu1227=
ENST00000682933.1:n.3800G>A
ENST00000683002.1:c.578G>A
ENST00000683072.1:n.4310G>A
ENST00000683080.1:n.1345G>A
ENST00000683125.1:c.3834G>A ENSP00000507939.1:p.Glu1278=
ENST00000683213.1:c.3729G>A ENSP00000507751.1:p.Glu1243=
ENST00000683220.1:c.3756G>A ENSP00000507151.1:p.Glu1252=
ENST00000683329.1:n.4529G>A
ENST00000683346.1:c.*3601G>A ENSP00000507458.1:n.*3601G>A
ENST00000683409.1:n.2333G>A
ENST00000683459.1:n.4313G>A
ENST00000683528.1:c.654G>A
ENST00000683590.1:c.3474G>A ENSP00000506820.1:p.Glu1158=
ENST00000683623.1:c.3633G>A ENSP00000507702.1:p.Glu1211=
ENST00000683645.1:n.4277G>A
ENST00000683796.1:c.*3598G>A ENSP00000508221.1:n.*3598G>A
ENST00000683802.1:n.6651G>A
ENST00000683833.1:c.3717G>A ENSP00000506852.1:p.Glu1239=
ENST00000683994.1:c.3726G>A ENSP00000507181.1:p.Glu1242=
ENST00000684290.1:c.*1262G>A ENSP00000507243.1:n.*1262G>A
ENST00000684306.1:c.*3639G>A ENSP00000508384.1:n.*3639G>A
ENST00000684341.1:n.3746G>A
ENST00000684383.1:c.*3364G>A ENSP00000506863.1:n.*3364G>A
ENST00000684418.1:n.4907G>A
ENST00000684433.1:n.110G>A
ENST00000684454.1:n.3076G>A
ENST00000684619.1:c.*3598G>A ENSP00000508088.1:n.*3598G>A
ENST00000684743.1:n.6471G>A
ENST00000260665.12:c.3726G>A MANE Select ENSP00000260665.7:p.Glu1242=
ENST00000260665.11:c.3726G>A ENSP00000260665.7:p.Glu1242=
ENST00000463456.5:n.2769G>A
ENST00000472420.5:n.123G>A
ENST00000483489.1:n.200G>A
NM_133259.3:c.3726G>A NP_573566.2:p.Glu1242=
XM_006711915.2:c.3648G>A XP_006711978.1:p.Glu1216=
XM_011532473.1:c.3726G>A XP_011530775.1:p.Glu1242=
XM_011532474.1:c.3726G>A XP_011530776.1:p.Glu1242=
XM_017003117.1:c.3648G>A XP_016858606.1:p.Glu1216=
XR_002958896.1:n.3768G>A
NM_133259.4:c.3726G>A MANE Select NP_573566.2:p.Glu1242=