Canonical Allele Identifier: CA425908230
Gene: LRPPRC HGNC NCBI

Linked Data

dbSNP Id: rs1671047155
MyVariant Identifiers: chr2:g.44132889C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905750C>G , CM000664.2:g.43905750C>G GRCh38
NC_000002.11:g.44132889C>G , CM000664.1:g.44132889C>G GRCh37
NC_000002.10:g.43986393C>G NCBI36
NG_008247.1:g.95256G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.385G>C
ENST00000681993.1:n.858G>C
ENST00000682295.1:c.461G>C ENSP00000507499.1:n.461G>C
ENST00000682303.1:c.*3092G>C ENSP00000508325.1:n.*3092G>C
ENST00000682308.1:c.3306G>C ENSP00000507056.1:p.Leu1102=
ENST00000682480.1:c.3324G>C ENSP00000508344.1:p.Leu1108=
ENST00000682546.1:c.3303G>C ENSP00000508188.1:p.Leu1101=
ENST00000682585.1:c.3306G>C ENSP00000506885.1:p.Leu1102=
ENST00000682595.1:n.3890G>C
ENST00000682607.1:c.1724G>C
ENST00000682612.1:c.158G>C
ENST00000682779.1:c.3297G>C ENSP00000507947.1:p.Leu1099=
ENST00000682845.1:n.2408G>C
ENST00000682885.1:c.3261G>C ENSP00000508036.1:p.Leu1087=
ENST00000682933.1:n.3380G>C
ENST00000683002.1:c.158G>C
ENST00000683072.1:n.3890G>C
ENST00000683080.1:n.925G>C
ENST00000683125.1:c.3414G>C ENSP00000507939.1:p.Leu1138=
ENST00000683213.1:c.3309G>C ENSP00000507751.1:p.Leu1103=
ENST00000683220.1:c.3336G>C ENSP00000507151.1:p.Leu1112=
ENST00000683329.1:n.4109G>C
ENST00000683346.1:c.*3181G>C ENSP00000507458.1:n.*3181G>C
ENST00000683409.1:n.1913G>C
ENST00000683459.1:n.3893G>C
ENST00000683528.1:c.158G>C
ENST00000683590.1:c.3054G>C ENSP00000506820.1:p.Leu1018=
ENST00000683623.1:c.3213G>C ENSP00000507702.1:p.Leu1071=
ENST00000683645.1:n.3857G>C
ENST00000683796.1:c.*3178G>C ENSP00000508221.1:n.*3178G>C
ENST00000683802.1:n.6231G>C
ENST00000683833.1:c.3297G>C ENSP00000506852.1:p.Leu1099=
ENST00000683994.1:c.3306G>C ENSP00000507181.1:p.Leu1102=
ENST00000684290.1:c.*842G>C ENSP00000507243.1:n.*842G>C
ENST00000684306.1:c.*3219G>C ENSP00000508384.1:n.*3219G>C
ENST00000684341.1:n.3326G>C
ENST00000684383.1:c.*2944G>C ENSP00000506863.1:n.*2944G>C
ENST00000684418.1:n.4487G>C
ENST00000684454.1:n.2656G>C
ENST00000684619.1:c.*3178G>C ENSP00000508088.1:n.*3178G>C
ENST00000684743.1:n.4337G>C
ENST00000260665.12:c.3306G>C MANE Select ENSP00000260665.7:p.Leu1102=
ENST00000260665.11:c.3306G>C ENSP00000260665.7:p.Leu1102=
NM_133259.3:c.3306G>C NP_573566.2:p.Leu1102=
XM_006711915.2:c.3228G>C XP_006711978.1:p.Leu1076=
XM_011532473.1:c.3306G>C XP_011530775.1:p.Leu1102=
XM_011532474.1:c.3306G>C XP_011530776.1:p.Leu1102=
XM_017003117.1:c.3228G>C XP_016858606.1:p.Leu1076=
XR_002958896.1:n.3348G>C
NM_133259.4:c.3306G>C MANE Select NP_573566.2:p.Leu1102=