Canonical Allele Identifier: CA346674930

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43894619-A-T
• MyVariant Identifiers: chr2:g.44121758A>T (hg19) ; chr2:g.43894619A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43894619A>T , CM000664.2:g.43894619A>T	GRCh38
NC_000002.11:g.44121758A>T , CM000664.1:g.44121758A>T	GRCh37
NC_000002.10:g.43975262A>T	NCBI36
NG_008247.1:g.106387T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.541T>A
ENST00000681993.1:n.1463T>A
ENST00000682154.1:n.1345T>A
ENST00000682303.1:c.*3622T>A	ENSP00000508325.1:n.*3622T>A
ENST00000682308.1:c.3836T>A	ENSP00000507056.1:p.Val1279Glu
ENST00000682434.1:n.3466T>A
ENST00000682480.1:c.3929T>A	ENSP00000508344.1:p.Val1310Glu
ENST00000682546.1:c.3908T>A	ENSP00000508188.1:p.Val1303Glu
ENST00000682585.1:c.*39T>A	ENSP00000506885.1:n.*39T>A
ENST00000682607.1:c.2654T>A
ENST00000682612.1:c.752+2015T>A
ENST00000682696.1:c.11T>A	ENSP00000508411.1:p.Val4Glu
ENST00000682779.1:c.3902T>A	ENSP00000507947.1:p.Val1301Glu
ENST00000682885.1:c.3866T>A	ENSP00000508036.1:p.Val1289Glu
ENST00000682933.1:n.4111T>A
ENST00000683002.1:c.763T>A
ENST00000683072.1:n.4495T>A
ENST00000683080.1:n.1530T>A
ENST00000683096.1:n.2352T>A
ENST00000683125.1:c.4019T>A	ENSP00000507939.1:p.Val1340Glu
ENST00000683213.1:c.3914T>A	ENSP00000507751.1:p.Val1305Glu
ENST00000683220.1:c.3941T>A	ENSP00000507151.1:p.Val1314Glu
ENST00000683329.1:n.4714T>A
ENST00000683346.1:c.*3786T>A	ENSP00000507458.1:n.*3786T>A
ENST00000683409.1:n.2443T>A
ENST00000683459.1:n.4498T>A
ENST00000683590.1:c.3584T>A	ENSP00000506820.1:p.Val1195Glu
ENST00000683623.1:c.3818T>A	ENSP00000507702.1:p.Val1273Glu
ENST00000683796.1:c.*3708T>A	ENSP00000508221.1:n.*3708T>A
ENST00000683833.1:c.3827T>A	ENSP00000506852.1:p.Val1276Glu
ENST00000683994.1:c.*24T>A	ENSP00000507181.1:n.*24T>A
ENST00000684290.1:c.*1372T>A	ENSP00000507243.1:n.*1372T>A
ENST00000684306.1:c.*3824T>A	ENSP00000508384.1:n.*3824T>A
ENST00000684383.1:c.*3549T>A	ENSP00000506863.1:n.*3549T>A
ENST00000684418.1:n.5092T>A
ENST00000684433.1:n.295T>A
ENST00000684454.1:n.7775T>A
ENST00000684619.1:c.*3783T>A	ENSP00000508088.1:n.*3783T>A
ENST00000684743.1:n.6656T>A
ENST00000260665.12:c.3911T>A MANE Select	ENSP00000260665.7:p.Val1304Glu
ENST00000260665.11:c.3911T>A	ENSP00000260665.7:p.Val1304Glu
ENST00000419884.5:c.152T>A	ENSP00000414207.1:p.Val51Glu
ENST00000463456.5:n.2954T>A
NM_133259.3:c.3911T>A	NP_573566.2:p.Val1304Glu
XM_006711915.2:c.3833T>A	XP_006711978.1:p.Val1278Glu
XM_011532473.1:c.3836T>A	XP_011530775.1:p.Val1279Glu
XM_011532474.1:c.3911T>A	XP_011530776.1:p.Val1304Glu
XM_017003117.1:c.3758T>A	XP_016858606.1:p.Val1253Glu
XR_002958896.1:n.3953T>A
NM_133259.4:c.3911T>A MANE Select	NP_573566.2:p.Val1304Glu