Canonical Allele Identifier: CA346676732

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126458T>A (hg19) ; chr2:g.43899319T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899319T>A , CM000664.2:g.43899319T>A	GRCh38
NC_000002.11:g.44126458T>A , CM000664.1:g.44126458T>A	GRCh37
NC_000002.10:g.43979962T>A	NCBI36
NG_008247.1:g.101687A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.156A>T
ENST00000472420.6:n.804A>T
ENST00000483489.2:n.156A>T
ENST00000681993.1:n.1277A>T
ENST00000682303.1:c.*3511A>T	ENSP00000508325.1:n.*3511A>T
ENST00000682308.1:c.3725A>T	ENSP00000507056.1:p.Glu1242Val
ENST00000682434.1:n.1276A>T
ENST00000682480.1:c.3743A>T	ENSP00000508344.1:p.Glu1248Val
ENST00000682546.1:c.3722A>T	ENSP00000508188.1:p.Glu1241Val
ENST00000682585.1:c.3725A>T	ENSP00000506885.1:p.Glu1242Val
ENST00000682595.1:n.4309A>T
ENST00000682607.1:c.2143A>T
ENST00000682612.1:c.577A>T
ENST00000682779.1:c.3716A>T	ENSP00000507947.1:p.Glu1239Val
ENST00000682845.1:n.2827A>T
ENST00000682885.1:c.3680A>T	ENSP00000508036.1:p.Glu1227Val
ENST00000682933.1:n.3799A>T
ENST00000683002.1:c.577A>T
ENST00000683072.1:n.4309A>T
ENST00000683080.1:n.1344A>T
ENST00000683125.1:c.3833A>T	ENSP00000507939.1:p.Glu1278Val
ENST00000683213.1:c.3728A>T	ENSP00000507751.1:p.Glu1243Val
ENST00000683220.1:c.3755A>T	ENSP00000507151.1:p.Glu1252Val
ENST00000683329.1:n.4528A>T
ENST00000683346.1:c.*3600A>T	ENSP00000507458.1:n.*3600A>T
ENST00000683409.1:n.2332A>T
ENST00000683459.1:n.4312A>T
ENST00000683528.1:c.653A>T
ENST00000683590.1:c.3473A>T	ENSP00000506820.1:p.Glu1158Val
ENST00000683623.1:c.3632A>T	ENSP00000507702.1:p.Glu1211Val
ENST00000683645.1:n.4276A>T
ENST00000683796.1:c.*3597A>T	ENSP00000508221.1:n.*3597A>T
ENST00000683802.1:n.6650A>T
ENST00000683833.1:c.3716A>T	ENSP00000506852.1:p.Glu1239Val
ENST00000683994.1:c.3725A>T	ENSP00000507181.1:p.Glu1242Val
ENST00000684290.1:c.*1261A>T	ENSP00000507243.1:n.*1261A>T
ENST00000684306.1:c.*3638A>T	ENSP00000508384.1:n.*3638A>T
ENST00000684341.1:n.3745A>T
ENST00000684383.1:c.*3363A>T	ENSP00000506863.1:n.*3363A>T
ENST00000684418.1:n.4906A>T
ENST00000684433.1:n.109A>T
ENST00000684454.1:n.3075A>T
ENST00000684619.1:c.*3597A>T	ENSP00000508088.1:n.*3597A>T
ENST00000684743.1:n.6470A>T
ENST00000260665.12:c.3725A>T MANE Select	ENSP00000260665.7:p.Glu1242Val
ENST00000260665.11:c.3725A>T	ENSP00000260665.7:p.Glu1242Val
ENST00000463456.5:n.2768A>T
ENST00000472420.5:n.122A>T
ENST00000483489.1:n.199A>T
NM_133259.3:c.3725A>T	NP_573566.2:p.Glu1242Val
XM_006711915.2:c.3647A>T	XP_006711978.1:p.Glu1216Val
XM_011532473.1:c.3725A>T	XP_011530775.1:p.Glu1242Val
XM_011532474.1:c.3725A>T	XP_011530776.1:p.Glu1242Val
XM_017003117.1:c.3647A>T	XP_016858606.1:p.Glu1216Val
XR_002958896.1:n.3767A>T
NM_133259.4:c.3725A>T MANE Select	NP_573566.2:p.Glu1242Val