Canonical Allele Identifier: CA346676454

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126392G>T (hg19) ; chr2:g.43899253G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899253G>T , CM000664.2:g.43899253G>T	GRCh38
NC_000002.11:g.44126392G>T , CM000664.1:g.44126392G>T	GRCh37
NC_000002.10:g.43979896G>T	NCBI36
NG_008247.1:g.101753C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.222C>A
ENST00000472420.6:n.870C>A
ENST00000483489.2:n.222C>A
ENST00000681993.1:n.1343C>A
ENST00000682303.1:c.*3577C>A	ENSP00000508325.1:n.*3577C>A
ENST00000682308.1:c.3791C>A	ENSP00000507056.1:p.Ala1264Glu
ENST00000682434.1:n.1342C>A
ENST00000682480.1:c.3809C>A	ENSP00000508344.1:p.Ala1270Glu
ENST00000682546.1:c.3788C>A	ENSP00000508188.1:p.Ala1263Glu
ENST00000682585.1:c.3791C>A	ENSP00000506885.1:p.Ala1264Glu
ENST00000682595.1:n.4375C>A
ENST00000682607.1:c.2209C>A
ENST00000682612.1:c.643C>A
ENST00000682779.1:c.3782C>A	ENSP00000507947.1:p.Ala1261Glu
ENST00000682845.1:n.2893C>A
ENST00000682885.1:c.3746C>A	ENSP00000508036.1:p.Ala1249Glu
ENST00000682933.1:n.3865C>A
ENST00000683002.1:c.643C>A
ENST00000683072.1:n.4375C>A
ENST00000683080.1:n.1410C>A
ENST00000683125.1:c.3899C>A	ENSP00000507939.1:p.Ala1300Glu
ENST00000683213.1:c.3794C>A	ENSP00000507751.1:p.Ala1265Glu
ENST00000683220.1:c.3821C>A	ENSP00000507151.1:p.Ala1274Glu
ENST00000683329.1:n.4594C>A
ENST00000683346.1:c.*3666C>A	ENSP00000507458.1:n.*3666C>A
ENST00000683409.1:n.2398C>A
ENST00000683459.1:n.4378C>A
ENST00000683528.1:c.719C>A
ENST00000683590.1:c.3539C>A	ENSP00000506820.1:p.Ala1180Glu
ENST00000683623.1:c.3698C>A	ENSP00000507702.1:p.Ala1233Glu
ENST00000683645.1:n.4342C>A
ENST00000683796.1:c.*3663C>A	ENSP00000508221.1:n.*3663C>A
ENST00000683802.1:n.6716C>A
ENST00000683833.1:c.3782C>A	ENSP00000506852.1:p.Ala1261Glu
ENST00000683994.1:c.3791C>A	ENSP00000507181.1:p.Ala1264Glu
ENST00000684290.1:c.*1327C>A	ENSP00000507243.1:n.*1327C>A
ENST00000684306.1:c.*3704C>A	ENSP00000508384.1:n.*3704C>A
ENST00000684341.1:n.3811C>A
ENST00000684383.1:c.*3429C>A	ENSP00000506863.1:n.*3429C>A
ENST00000684418.1:n.4972C>A
ENST00000684433.1:n.175C>A
ENST00000684454.1:n.3141C>A
ENST00000684619.1:c.*3663C>A	ENSP00000508088.1:n.*3663C>A
ENST00000684743.1:n.6536C>A
ENST00000260665.12:c.3791C>A MANE Select	ENSP00000260665.7:p.Ala1264Glu
ENST00000260665.11:c.3791C>A	ENSP00000260665.7:p.Ala1264Glu
ENST00000419884.5:c.32C>A	ENSP00000414207.1:p.Ala11Glu
ENST00000463456.5:n.2834C>A
ENST00000472420.5:n.188C>A
ENST00000483489.1:n.265C>A
NM_133259.3:c.3791C>A	NP_573566.2:p.Ala1264Glu
XM_006711915.2:c.3713C>A	XP_006711978.1:p.Ala1238Glu
XM_011532473.1:c.3791C>A	XP_011530775.1:p.Ala1264Glu
XM_011532474.1:c.3791C>A	XP_011530776.1:p.Ala1264Glu
XM_017003117.1:c.3713C>A	XP_016858606.1:p.Ala1238Glu
XR_002958896.1:n.3833C>A
NM_133259.4:c.3791C>A MANE Select	NP_573566.2:p.Ala1264Glu