Canonical Allele Identifier: CA346665105

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671048214
• gnomAD v4: 2-43905769-T-C
• MyVariant Identifiers: chr2:g.44132908T>C (hg19) ; chr2:g.43905769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905769T>C , CM000664.2:g.43905769T>C	GRCh38
NC_000002.11:g.44132908T>C , CM000664.1:g.44132908T>C	GRCh37
NC_000002.10:g.43986412T>C	NCBI36
NG_008247.1:g.95237A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.366A>G
ENST00000681993.1:n.839A>G
ENST00000682295.1:c.442A>G	ENSP00000507499.1:n.442A>G
ENST00000682303.1:c.*3073A>G	ENSP00000508325.1:n.*3073A>G
ENST00000682308.1:c.3287A>G	ENSP00000507056.1:p.His1096Arg
ENST00000682480.1:c.3305A>G	ENSP00000508344.1:p.His1102Arg
ENST00000682546.1:c.3284A>G	ENSP00000508188.1:p.His1095Arg
ENST00000682585.1:c.3287A>G	ENSP00000506885.1:p.His1096Arg
ENST00000682595.1:n.3871A>G
ENST00000682607.1:c.1705A>G
ENST00000682612.1:c.139A>G
ENST00000682779.1:c.3278A>G	ENSP00000507947.1:p.His1093Arg
ENST00000682845.1:n.2389A>G
ENST00000682885.1:c.3242A>G	ENSP00000508036.1:p.His1081Arg
ENST00000682933.1:n.3361A>G
ENST00000683002.1:c.139A>G
ENST00000683072.1:n.3871A>G
ENST00000683080.1:n.906A>G
ENST00000683125.1:c.3395A>G	ENSP00000507939.1:p.His1132Arg
ENST00000683213.1:c.3290A>G	ENSP00000507751.1:p.His1097Arg
ENST00000683220.1:c.3317A>G	ENSP00000507151.1:p.His1106Arg
ENST00000683329.1:n.4090A>G
ENST00000683346.1:c.*3162A>G	ENSP00000507458.1:n.*3162A>G
ENST00000683409.1:n.1894A>G
ENST00000683459.1:n.3874A>G
ENST00000683528.1:c.139A>G
ENST00000683590.1:c.3035A>G	ENSP00000506820.1:p.His1012Arg
ENST00000683623.1:c.3194A>G	ENSP00000507702.1:p.His1065Arg
ENST00000683645.1:n.3838A>G
ENST00000683796.1:c.*3159A>G	ENSP00000508221.1:n.*3159A>G
ENST00000683802.1:n.6212A>G
ENST00000683833.1:c.3278A>G	ENSP00000506852.1:p.His1093Arg
ENST00000683994.1:c.3287A>G	ENSP00000507181.1:p.His1096Arg
ENST00000684290.1:c.*823A>G	ENSP00000507243.1:n.*823A>G
ENST00000684306.1:c.*3200A>G	ENSP00000508384.1:n.*3200A>G
ENST00000684341.1:n.3307A>G
ENST00000684383.1:c.*2925A>G	ENSP00000506863.1:n.*2925A>G
ENST00000684418.1:n.4468A>G
ENST00000684454.1:n.2637A>G
ENST00000684619.1:c.*3159A>G	ENSP00000508088.1:n.*3159A>G
ENST00000684743.1:n.4318A>G
ENST00000260665.12:c.3287A>G MANE Select	ENSP00000260665.7:p.His1096Arg
ENST00000260665.11:c.3287A>G	ENSP00000260665.7:p.His1096Arg
NM_133259.3:c.3287A>G	NP_573566.2:p.His1096Arg
XM_006711915.2:c.3209A>G	XP_006711978.1:p.His1070Arg
XM_011532473.1:c.3287A>G	XP_011530775.1:p.His1096Arg
XM_011532474.1:c.3287A>G	XP_011530776.1:p.His1096Arg
XM_017003117.1:c.3209A>G	XP_016858606.1:p.His1070Arg
XR_002958896.1:n.3329A>G
NM_133259.4:c.3287A>G MANE Select	NP_573566.2:p.His1096Arg