Canonical Allele Identifier: CA425909117
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44121739C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894600C>T , CM000664.2:g.43894600C>T GRCh38
NC_000002.11:g.44121739C>T , CM000664.1:g.44121739C>T GRCh37
NC_000002.10:g.43975243C>T NCBI36
NG_008247.1:g.106406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000419884.6:c.560G>A
ENST00000681993.1:n.1482G>A
ENST00000682154.1:n.1364G>A
ENST00000682303.1:c.*3641G>A ENSP00000508325.1:n.*3641G>A
ENST00000682308.1:c.3855G>A ENSP00000507056.1:p.Leu1285=
ENST00000682434.1:n.3485G>A
ENST00000682480.1:c.3948G>A ENSP00000508344.1:p.Leu1316=
ENST00000682546.1:c.3927G>A ENSP00000508188.1:p.Leu1309=
ENST00000682585.1:c.*58G>A ENSP00000506885.1:n.*58G>A
ENST00000682607.1:c.2673G>A
ENST00000682612.1:c.752+2034G>A
ENST00000682696.1:c.30G>A ENSP00000508411.1:p.Leu10=
ENST00000682779.1:c.3921G>A ENSP00000507947.1:p.Leu1307=
ENST00000682885.1:c.3885G>A ENSP00000508036.1:p.Leu1295=
ENST00000682933.1:n.4130G>A
ENST00000683002.1:c.782G>A
ENST00000683072.1:n.4514G>A
ENST00000683080.1:n.1549G>A
ENST00000683096.1:n.2371G>A
ENST00000683125.1:c.4038G>A ENSP00000507939.1:p.Leu1346=
ENST00000683213.1:c.3933G>A ENSP00000507751.1:p.Leu1311=
ENST00000683220.1:c.3960G>A ENSP00000507151.1:p.Leu1320=
ENST00000683329.1:n.4733G>A
ENST00000683346.1:c.*3805G>A ENSP00000507458.1:n.*3805G>A
ENST00000683409.1:n.2462G>A
ENST00000683459.1:n.4517G>A
ENST00000683590.1:c.3603G>A ENSP00000506820.1:p.Leu1201=
ENST00000683623.1:c.3837G>A ENSP00000507702.1:p.Leu1279=
ENST00000683796.1:c.*3727G>A ENSP00000508221.1:n.*3727G>A
ENST00000683833.1:c.3846G>A ENSP00000506852.1:p.Leu1282=
ENST00000683994.1:c.*43G>A ENSP00000507181.1:n.*43G>A
ENST00000684290.1:c.*1391G>A ENSP00000507243.1:n.*1391G>A
ENST00000684306.1:c.*3843G>A ENSP00000508384.1:n.*3843G>A
ENST00000684383.1:c.*3568G>A ENSP00000506863.1:n.*3568G>A
ENST00000684418.1:n.5111G>A
ENST00000684433.1:n.314G>A
ENST00000684454.1:n.7794G>A
ENST00000684619.1:c.*3802G>A ENSP00000508088.1:n.*3802G>A
ENST00000684743.1:n.6675G>A
ENST00000260665.12:c.3930G>A MANE Select ENSP00000260665.7:p.Leu1310=
ENST00000260665.11:c.3930G>A ENSP00000260665.7:p.Leu1310=
ENST00000419884.5:c.171G>A ENSP00000414207.1:p.Leu57=
ENST00000463456.5:n.2973G>A
NM_133259.3:c.3930G>A NP_573566.2:p.Leu1310=
XM_006711915.2:c.3852G>A XP_006711978.1:p.Leu1284=
XM_011532473.1:c.3855G>A XP_011530775.1:p.Leu1285=
XM_011532474.1:c.3930G>A XP_011530776.1:p.Leu1310=
XM_017003117.1:c.3777G>A XP_016858606.1:p.Leu1259=
XR_002958896.1:n.3972G>A
NM_133259.4:c.3930G>A MANE Select NP_573566.2:p.Leu1310=