Canonical Allele Identifier: CA1638087

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1343729
• ClinVar RCV Id: RCV001844746
• dbSNP Id: rs369972045
• ExAC: 2:44132845 C / T
• gnomAD v2: 2-44132845-C-T
• gnomAD v3: 2-43905706-C-T
• gnomAD v4: 2-43905706-C-T
• MyVariant Identifiers: chr2:g.44132845C>T (hg19) ; chr2:g.43905706C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905706C>T , CM000664.2:g.43905706C>T	GRCh38
NC_000002.11:g.44132845C>T , CM000664.1:g.44132845C>T	GRCh37
NC_000002.10:g.43986349C>T	NCBI36
NG_008247.1:g.95300G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.429G>A
ENST00000681993.1:n.902G>A
ENST00000682295.1:c.505G>A	ENSP00000507499.1:n.505G>A
ENST00000682303.1:c.*3136G>A	ENSP00000508325.1:n.*3136G>A
ENST00000682308.1:c.3350G>A	ENSP00000507056.1:p.Arg1117Gln
ENST00000682480.1:c.3368G>A	ENSP00000508344.1:p.Arg1123Gln
ENST00000682546.1:c.3347G>A	ENSP00000508188.1:p.Arg1116Gln
ENST00000682585.1:c.3350G>A	ENSP00000506885.1:p.Arg1117Gln
ENST00000682595.1:n.3934G>A
ENST00000682607.1:c.1768G>A
ENST00000682612.1:c.202G>A
ENST00000682779.1:c.3341G>A	ENSP00000507947.1:p.Arg1114Gln
ENST00000682845.1:n.2452G>A
ENST00000682885.1:c.3305G>A	ENSP00000508036.1:p.Arg1102Gln
ENST00000682933.1:n.3424G>A
ENST00000683002.1:c.202G>A
ENST00000683072.1:n.3934G>A
ENST00000683080.1:n.969G>A
ENST00000683125.1:c.3458G>A	ENSP00000507939.1:p.Arg1153Gln
ENST00000683213.1:c.3353G>A	ENSP00000507751.1:p.Arg1118Gln
ENST00000683220.1:c.3380G>A	ENSP00000507151.1:p.Arg1127Gln
ENST00000683329.1:n.4153G>A
ENST00000683346.1:c.*3225G>A	ENSP00000507458.1:n.*3225G>A
ENST00000683409.1:n.1957G>A
ENST00000683459.1:n.3937G>A
ENST00000683528.1:c.202G>A
ENST00000683590.1:c.3098G>A	ENSP00000506820.1:p.Arg1033Gln
ENST00000683623.1:c.3257G>A	ENSP00000507702.1:p.Arg1086Gln
ENST00000683645.1:n.3901G>A
ENST00000683796.1:c.*3222G>A	ENSP00000508221.1:n.*3222G>A
ENST00000683802.1:n.6275G>A
ENST00000683833.1:c.3341G>A	ENSP00000506852.1:p.Arg1114Gln
ENST00000683994.1:c.3350G>A	ENSP00000507181.1:p.Arg1117Gln
ENST00000684290.1:c.*886G>A	ENSP00000507243.1:n.*886G>A
ENST00000684306.1:c.*3263G>A	ENSP00000508384.1:n.*3263G>A
ENST00000684341.1:n.3370G>A
ENST00000684383.1:c.*2988G>A	ENSP00000506863.1:n.*2988G>A
ENST00000684418.1:n.4531G>A
ENST00000684454.1:n.2700G>A
ENST00000684619.1:c.*3222G>A	ENSP00000508088.1:n.*3222G>A
ENST00000684743.1:n.4381G>A
ENST00000260665.12:c.3350G>A MANE Select	ENSP00000260665.7:p.Arg1117Gln
ENST00000260665.11:c.3350G>A	ENSP00000260665.7:p.Arg1117Gln
NM_133259.3:c.3350G>A	NP_573566.2:p.Arg1117Gln
XM_006711915.2:c.3272G>A	XP_006711978.1:p.Arg1091Gln
XM_011532473.1:c.3350G>A	XP_011530775.1:p.Arg1117Gln
XM_011532474.1:c.3350G>A	XP_011530776.1:p.Arg1117Gln
XM_017003117.1:c.3272G>A	XP_016858606.1:p.Arg1091Gln
XR_002958896.1:n.3392G>A
NM_133259.4:c.3350G>A MANE Select	NP_573566.2:p.Arg1117Gln