Canonical Allele Identifier: CA346674924

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894617-T-C
• MyVariant Identifiers: chr2:g.44121756T>C (hg19) ; chr2:g.43894617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894617T>C , CM000664.2:g.43894617T>C	GRCh38
NC_000002.11:g.44121756T>C , CM000664.1:g.44121756T>C	GRCh37
NC_000002.10:g.43975260T>C	NCBI36
NG_008247.1:g.106389A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.543A>G
ENST00000681993.1:n.1465A>G
ENST00000682154.1:n.1347A>G
ENST00000682303.1:c.*3624A>G	ENSP00000508325.1:n.*3624A>G
ENST00000682308.1:c.3838A>G	ENSP00000507056.1:p.Lys1280Glu
ENST00000682434.1:n.3468A>G
ENST00000682480.1:c.3931A>G	ENSP00000508344.1:p.Lys1311Glu
ENST00000682546.1:c.3910A>G	ENSP00000508188.1:p.Lys1304Glu
ENST00000682585.1:c.*41A>G	ENSP00000506885.1:n.*41A>G
ENST00000682607.1:c.2656A>G
ENST00000682612.1:c.752+2017A>G
ENST00000682696.1:c.13A>G	ENSP00000508411.1:p.Lys5Glu
ENST00000682779.1:c.3904A>G	ENSP00000507947.1:p.Lys1302Glu
ENST00000682885.1:c.3868A>G	ENSP00000508036.1:p.Lys1290Glu
ENST00000682933.1:n.4113A>G
ENST00000683002.1:c.765A>G
ENST00000683072.1:n.4497A>G
ENST00000683080.1:n.1532A>G
ENST00000683096.1:n.2354A>G
ENST00000683125.1:c.4021A>G	ENSP00000507939.1:p.Lys1341Glu
ENST00000683213.1:c.3916A>G	ENSP00000507751.1:p.Lys1306Glu
ENST00000683220.1:c.3943A>G	ENSP00000507151.1:p.Lys1315Glu
ENST00000683329.1:n.4716A>G
ENST00000683346.1:c.*3788A>G	ENSP00000507458.1:n.*3788A>G
ENST00000683409.1:n.2445A>G
ENST00000683459.1:n.4500A>G
ENST00000683590.1:c.3586A>G	ENSP00000506820.1:p.Lys1196Glu
ENST00000683623.1:c.3820A>G	ENSP00000507702.1:p.Lys1274Glu
ENST00000683796.1:c.*3710A>G	ENSP00000508221.1:n.*3710A>G
ENST00000683833.1:c.3829A>G	ENSP00000506852.1:p.Lys1277Glu
ENST00000683994.1:c.*26A>G	ENSP00000507181.1:n.*26A>G
ENST00000684290.1:c.*1374A>G	ENSP00000507243.1:n.*1374A>G
ENST00000684306.1:c.*3826A>G	ENSP00000508384.1:n.*3826A>G
ENST00000684383.1:c.*3551A>G	ENSP00000506863.1:n.*3551A>G
ENST00000684418.1:n.5094A>G
ENST00000684433.1:n.297A>G
ENST00000684454.1:n.7777A>G
ENST00000684619.1:c.*3785A>G	ENSP00000508088.1:n.*3785A>G
ENST00000684743.1:n.6658A>G
ENST00000260665.12:c.3913A>G MANE Select	ENSP00000260665.7:p.Lys1305Glu
ENST00000260665.11:c.3913A>G	ENSP00000260665.7:p.Lys1305Glu
ENST00000419884.5:c.154A>G	ENSP00000414207.1:p.Lys52Glu
ENST00000463456.5:n.2956A>G
NM_133259.3:c.3913A>G	NP_573566.2:p.Lys1305Glu
XM_006711915.2:c.3835A>G	XP_006711978.1:p.Lys1279Glu
XM_011532473.1:c.3838A>G	XP_011530775.1:p.Lys1280Glu
XM_011532474.1:c.3913A>G	XP_011530776.1:p.Lys1305Glu
XM_017003117.1:c.3760A>G	XP_016858606.1:p.Lys1254Glu
XR_002958896.1:n.3955A>G
NM_133259.4:c.3913A>G MANE Select	NP_573566.2:p.Lys1305Glu