Canonical Allele Identifier: CA425908183

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1661605
• ClinVar RCV Id: RCV002193168
• dbSNP Id: rs1671045030
• gnomAD v4: 2-43905708-C-T
• MyVariant Identifiers: chr2:g.44132847C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905708C>T , CM000664.2:g.43905708C>T	GRCh38
NC_000002.11:g.44132847C>T , CM000664.1:g.44132847C>T	GRCh37
NC_000002.10:g.43986351C>T	NCBI36
NG_008247.1:g.95298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.427G>A
ENST00000681993.1:n.900G>A
ENST00000682295.1:c.503G>A	ENSP00000507499.1:n.503G>A
ENST00000682303.1:c.*3134G>A	ENSP00000508325.1:n.*3134G>A
ENST00000682308.1:c.3348G>A	ENSP00000507056.1:p.Arg1116=
ENST00000682480.1:c.3366G>A	ENSP00000508344.1:p.Arg1122=
ENST00000682546.1:c.3345G>A	ENSP00000508188.1:p.Arg1115=
ENST00000682585.1:c.3348G>A	ENSP00000506885.1:p.Arg1116=
ENST00000682595.1:n.3932G>A
ENST00000682607.1:c.1766G>A
ENST00000682612.1:c.200G>A
ENST00000682779.1:c.3339G>A	ENSP00000507947.1:p.Arg1113=
ENST00000682845.1:n.2450G>A
ENST00000682885.1:c.3303G>A	ENSP00000508036.1:p.Arg1101=
ENST00000682933.1:n.3422G>A
ENST00000683002.1:c.200G>A
ENST00000683072.1:n.3932G>A
ENST00000683080.1:n.967G>A
ENST00000683125.1:c.3456G>A	ENSP00000507939.1:p.Arg1152=
ENST00000683213.1:c.3351G>A	ENSP00000507751.1:p.Arg1117=
ENST00000683220.1:c.3378G>A	ENSP00000507151.1:p.Arg1126=
ENST00000683329.1:n.4151G>A
ENST00000683346.1:c.*3223G>A	ENSP00000507458.1:n.*3223G>A
ENST00000683409.1:n.1955G>A
ENST00000683459.1:n.3935G>A
ENST00000683528.1:c.200G>A
ENST00000683590.1:c.3096G>A	ENSP00000506820.1:p.Arg1032=
ENST00000683623.1:c.3255G>A	ENSP00000507702.1:p.Arg1085=
ENST00000683645.1:n.3899G>A
ENST00000683796.1:c.*3220G>A	ENSP00000508221.1:n.*3220G>A
ENST00000683802.1:n.6273G>A
ENST00000683833.1:c.3339G>A	ENSP00000506852.1:p.Arg1113=
ENST00000683994.1:c.3348G>A	ENSP00000507181.1:p.Arg1116=
ENST00000684290.1:c.*884G>A	ENSP00000507243.1:n.*884G>A
ENST00000684306.1:c.*3261G>A	ENSP00000508384.1:n.*3261G>A
ENST00000684341.1:n.3368G>A
ENST00000684383.1:c.*2986G>A	ENSP00000506863.1:n.*2986G>A
ENST00000684418.1:n.4529G>A
ENST00000684454.1:n.2698G>A
ENST00000684619.1:c.*3220G>A	ENSP00000508088.1:n.*3220G>A
ENST00000684743.1:n.4379G>A
ENST00000260665.12:c.3348G>A MANE Select	ENSP00000260665.7:p.Arg1116=
ENST00000260665.11:c.3348G>A	ENSP00000260665.7:p.Arg1116=
NM_133259.3:c.3348G>A	NP_573566.2:p.Arg1116=
XM_006711915.2:c.3270G>A	XP_006711978.1:p.Arg1090=
XM_011532473.1:c.3348G>A	XP_011530775.1:p.Arg1116=
XM_011532474.1:c.3348G>A	XP_011530776.1:p.Arg1116=
XM_017003117.1:c.3270G>A	XP_016858606.1:p.Arg1090=
XR_002958896.1:n.3390G>A
NM_133259.4:c.3348G>A MANE Select	NP_573566.2:p.Arg1116=