Canonical Allele Identifier: CA425908180
Gene: LRPPRC HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.44132844C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905705C>A , CM000664.2:g.43905705C>A GRCh38
NC_000002.11:g.44132844C>A , CM000664.1:g.44132844C>A GRCh37
NC_000002.10:g.43986348C>A NCBI36
NG_008247.1:g.95301G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.430G>T
ENST00000681993.1:n.903G>T
ENST00000682295.1:c.506G>T ENSP00000507499.1:n.506G>T
ENST00000682303.1:c.*3137G>T ENSP00000508325.1:n.*3137G>T
ENST00000682308.1:c.3351G>T ENSP00000507056.1:p.Arg1117=
ENST00000682480.1:c.3369G>T ENSP00000508344.1:p.Arg1123=
ENST00000682546.1:c.3348G>T ENSP00000508188.1:p.Arg1116=
ENST00000682585.1:c.3351G>T ENSP00000506885.1:p.Arg1117=
ENST00000682595.1:n.3935G>T
ENST00000682607.1:c.1769G>T
ENST00000682612.1:c.203G>T
ENST00000682779.1:c.3342G>T ENSP00000507947.1:p.Arg1114=
ENST00000682845.1:n.2453G>T
ENST00000682885.1:c.3306G>T ENSP00000508036.1:p.Arg1102=
ENST00000682933.1:n.3425G>T
ENST00000683002.1:c.203G>T
ENST00000683072.1:n.3935G>T
ENST00000683080.1:n.970G>T
ENST00000683125.1:c.3459G>T ENSP00000507939.1:p.Arg1153=
ENST00000683213.1:c.3354G>T ENSP00000507751.1:p.Arg1118=
ENST00000683220.1:c.3381G>T ENSP00000507151.1:p.Arg1127=
ENST00000683329.1:n.4154G>T
ENST00000683346.1:c.*3226G>T ENSP00000507458.1:n.*3226G>T
ENST00000683409.1:n.1958G>T
ENST00000683459.1:n.3938G>T
ENST00000683528.1:c.203G>T
ENST00000683590.1:c.3099G>T ENSP00000506820.1:p.Arg1033=
ENST00000683623.1:c.3258G>T ENSP00000507702.1:p.Arg1086=
ENST00000683645.1:n.3902G>T
ENST00000683796.1:c.*3223G>T ENSP00000508221.1:n.*3223G>T
ENST00000683802.1:n.6276G>T
ENST00000683833.1:c.3342G>T ENSP00000506852.1:p.Arg1114=
ENST00000683994.1:c.3351G>T ENSP00000507181.1:p.Arg1117=
ENST00000684290.1:c.*887G>T ENSP00000507243.1:n.*887G>T
ENST00000684306.1:c.*3264G>T ENSP00000508384.1:n.*3264G>T
ENST00000684341.1:n.3371G>T
ENST00000684383.1:c.*2989G>T ENSP00000506863.1:n.*2989G>T
ENST00000684418.1:n.4532G>T
ENST00000684454.1:n.2701G>T
ENST00000684619.1:c.*3223G>T ENSP00000508088.1:n.*3223G>T
ENST00000684743.1:n.4382G>T
ENST00000260665.12:c.3351G>T MANE Select ENSP00000260665.7:p.Arg1117=
ENST00000260665.11:c.3351G>T ENSP00000260665.7:p.Arg1117=
NM_133259.3:c.3351G>T NP_573566.2:p.Arg1117=
XM_006711915.2:c.3273G>T XP_006711978.1:p.Arg1091=
XM_011532473.1:c.3351G>T XP_011530775.1:p.Arg1117=
XM_011532474.1:c.3351G>T XP_011530776.1:p.Arg1117=
XM_017003117.1:c.3273G>T XP_016858606.1:p.Arg1091=
XR_002958896.1:n.3393G>T
NM_133259.4:c.3351G>T MANE Select NP_573566.2:p.Arg1117=