Canonical Allele Identifier: CA1637947

Gene: LRPPRC

Linked Data

• dbSNP Id: rs199559591
• ExAC: 2:44126401 A / C
• gnomAD v2: 2-44126401-A-C
• gnomAD v3: 2-43899262-A-C
• gnomAD v4: 2-43899262-A-C
• MyVariant Identifiers: chr2:g.44126401A>C (hg19) ; chr2:g.43899262A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899262A>C , CM000664.2:g.43899262A>C	GRCh38
NC_000002.11:g.44126401A>C , CM000664.1:g.44126401A>C	GRCh37
NC_000002.10:g.43979905A>C	NCBI36
NG_008247.1:g.101744T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.213T>G
ENST00000472420.6:n.861T>G
ENST00000483489.2:n.213T>G
ENST00000681993.1:n.1334T>G
ENST00000682303.1:c.*3568T>G	ENSP00000508325.1:n.*3568T>G
ENST00000682308.1:c.3782T>G	ENSP00000507056.1:p.Leu1261Arg
ENST00000682434.1:n.1333T>G
ENST00000682480.1:c.3800T>G	ENSP00000508344.1:p.Leu1267Arg
ENST00000682546.1:c.3779T>G	ENSP00000508188.1:p.Leu1260Arg
ENST00000682585.1:c.3782T>G	ENSP00000506885.1:p.Leu1261Arg
ENST00000682595.1:n.4366T>G
ENST00000682607.1:c.2200T>G
ENST00000682612.1:c.634T>G
ENST00000682779.1:c.3773T>G	ENSP00000507947.1:p.Leu1258Arg
ENST00000682845.1:n.2884T>G
ENST00000682885.1:c.3737T>G	ENSP00000508036.1:p.Leu1246Arg
ENST00000682933.1:n.3856T>G
ENST00000683002.1:c.634T>G
ENST00000683072.1:n.4366T>G
ENST00000683080.1:n.1401T>G
ENST00000683125.1:c.3890T>G	ENSP00000507939.1:p.Leu1297Arg
ENST00000683213.1:c.3785T>G	ENSP00000507751.1:p.Leu1262Arg
ENST00000683220.1:c.3812T>G	ENSP00000507151.1:p.Leu1271Arg
ENST00000683329.1:n.4585T>G
ENST00000683346.1:c.*3657T>G	ENSP00000507458.1:n.*3657T>G
ENST00000683409.1:n.2389T>G
ENST00000683459.1:n.4369T>G
ENST00000683528.1:c.710T>G
ENST00000683590.1:c.3530T>G	ENSP00000506820.1:p.Leu1177Arg
ENST00000683623.1:c.3689T>G	ENSP00000507702.1:p.Leu1230Arg
ENST00000683645.1:n.4333T>G
ENST00000683796.1:c.*3654T>G	ENSP00000508221.1:n.*3654T>G
ENST00000683802.1:n.6707T>G
ENST00000683833.1:c.3773T>G	ENSP00000506852.1:p.Leu1258Arg
ENST00000683994.1:c.3782T>G	ENSP00000507181.1:p.Leu1261Arg
ENST00000684290.1:c.*1318T>G	ENSP00000507243.1:n.*1318T>G
ENST00000684306.1:c.*3695T>G	ENSP00000508384.1:n.*3695T>G
ENST00000684341.1:n.3802T>G
ENST00000684383.1:c.*3420T>G	ENSP00000506863.1:n.*3420T>G
ENST00000684418.1:n.4963T>G
ENST00000684433.1:n.166T>G
ENST00000684454.1:n.3132T>G
ENST00000684619.1:c.*3654T>G	ENSP00000508088.1:n.*3654T>G
ENST00000684743.1:n.6527T>G
ENST00000260665.12:c.3782T>G MANE Select	ENSP00000260665.7:p.Leu1261Arg
ENST00000260665.11:c.3782T>G	ENSP00000260665.7:p.Leu1261Arg
ENST00000419884.5:c.23T>G	ENSP00000414207.1:p.Leu8Arg
ENST00000463456.5:n.2825T>G
ENST00000472420.5:n.179T>G
ENST00000483489.1:n.256T>G
NM_133259.3:c.3782T>G	NP_573566.2:p.Leu1261Arg
XM_006711915.2:c.3704T>G	XP_006711978.1:p.Leu1235Arg
XM_011532473.1:c.3782T>G	XP_011530775.1:p.Leu1261Arg
XM_011532474.1:c.3782T>G	XP_011530776.1:p.Leu1261Arg
XM_017003117.1:c.3704T>G	XP_016858606.1:p.Leu1235Arg
XR_002958896.1:n.3824T>G
NM_133259.4:c.3782T>G MANE Select	NP_573566.2:p.Leu1261Arg