Canonical Allele Identifier: CA346674921

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.543A>T
ENST00000681993.1:n.1465A>T
ENST00000682154.1:n.1347A>T
ENST00000682303.1:c.*3624A>T	ENSP00000508325.1:n.*3624A>T
ENST00000682308.1:c.3838A>T	ENSP00000507056.1:p.Lys1280Ter
ENST00000682434.1:n.3468A>T
ENST00000682480.1:c.3931A>T	ENSP00000508344.1:p.Lys1311Ter
ENST00000682546.1:c.3910A>T	ENSP00000508188.1:p.Lys1304Ter
ENST00000682585.1:c.*41A>T	ENSP00000506885.1:n.*41A>T
ENST00000682607.1:c.2656A>T
ENST00000682612.1:c.752+2017A>T
ENST00000682696.1:c.13A>T	ENSP00000508411.1:p.Lys5Ter
ENST00000682779.1:c.3904A>T	ENSP00000507947.1:p.Lys1302Ter
ENST00000682885.1:c.3868A>T	ENSP00000508036.1:p.Lys1290Ter
ENST00000682933.1:n.4113A>T
ENST00000683002.1:c.765A>T
ENST00000683072.1:n.4497A>T
ENST00000683080.1:n.1532A>T
ENST00000683096.1:n.2354A>T
ENST00000683125.1:c.4021A>T	ENSP00000507939.1:p.Lys1341Ter
ENST00000683213.1:c.3916A>T	ENSP00000507751.1:p.Lys1306Ter
ENST00000683220.1:c.3943A>T	ENSP00000507151.1:p.Lys1315Ter
ENST00000683329.1:n.4716A>T
ENST00000683346.1:c.*3788A>T	ENSP00000507458.1:n.*3788A>T
ENST00000683409.1:n.2445A>T
ENST00000683459.1:n.4500A>T
ENST00000683590.1:c.3586A>T	ENSP00000506820.1:p.Lys1196Ter
ENST00000683623.1:c.3820A>T	ENSP00000507702.1:p.Lys1274Ter
ENST00000683796.1:c.*3710A>T	ENSP00000508221.1:n.*3710A>T
ENST00000683833.1:c.3829A>T	ENSP00000506852.1:p.Lys1277Ter
ENST00000683994.1:c.*26A>T	ENSP00000507181.1:n.*26A>T
ENST00000684290.1:c.*1374A>T	ENSP00000507243.1:n.*1374A>T
ENST00000684306.1:c.*3826A>T	ENSP00000508384.1:n.*3826A>T
ENST00000684383.1:c.*3551A>T	ENSP00000506863.1:n.*3551A>T
ENST00000684418.1:n.5094A>T
ENST00000684433.1:n.297A>T
ENST00000684454.1:n.7777A>T
ENST00000684619.1:c.*3785A>T	ENSP00000508088.1:n.*3785A>T
ENST00000684743.1:n.6658A>T
ENST00000260665.12:c.3913A>T MANE Select	ENSP00000260665.7:p.Lys1305Ter
ENST00000260665.11:c.3913A>T	ENSP00000260665.7:p.Lys1305Ter
ENST00000419884.5:c.154A>T	ENSP00000414207.1:p.Lys52Ter
ENST00000463456.5:n.2956A>T
NM_133259.3:c.3913A>T	NP_573566.2:p.Lys1305Ter
XM_006711915.2:c.3835A>T	XP_006711978.1:p.Lys1279Ter
XM_011532473.1:c.3838A>T	XP_011530775.1:p.Lys1280Ter
XM_011532474.1:c.3913A>T	XP_011530776.1:p.Lys1305Ter
XM_017003117.1:c.3760A>T	XP_016858606.1:p.Lys1254Ter
XR_002958896.1:n.3955A>T
NM_133259.4:c.3913A>T MANE Select	NP_573566.2:p.Lys1305Ter