Canonical Allele Identifier: CA346676770

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126473A>C (hg19) ; chr2:g.43899334A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899334A>C , CM000664.2:g.43899334A>C	GRCh38
NC_000002.11:g.44126473A>C , CM000664.1:g.44126473A>C	GRCh37
NC_000002.10:g.43979977A>C	NCBI36
NG_008247.1:g.101672T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.141T>G
ENST00000472420.6:n.789T>G
ENST00000483489.2:n.141T>G
ENST00000681993.1:n.1262T>G
ENST00000682303.1:c.*3496T>G	ENSP00000508325.1:n.*3496T>G
ENST00000682308.1:c.3710T>G	ENSP00000507056.1:p.Ile1237Arg
ENST00000682434.1:n.1261T>G
ENST00000682480.1:c.3728T>G	ENSP00000508344.1:p.Ile1243Arg
ENST00000682546.1:c.3707T>G	ENSP00000508188.1:p.Ile1236Arg
ENST00000682585.1:c.3710T>G	ENSP00000506885.1:p.Ile1237Arg
ENST00000682595.1:n.4294T>G
ENST00000682607.1:c.2128T>G
ENST00000682612.1:c.562T>G
ENST00000682779.1:c.3701T>G	ENSP00000507947.1:p.Ile1234Arg
ENST00000682845.1:n.2812T>G
ENST00000682885.1:c.3665T>G	ENSP00000508036.1:p.Ile1222Arg
ENST00000682933.1:n.3784T>G
ENST00000683002.1:c.562T>G
ENST00000683072.1:n.4294T>G
ENST00000683080.1:n.1329T>G
ENST00000683125.1:c.3818T>G	ENSP00000507939.1:p.Ile1273Arg
ENST00000683213.1:c.3713T>G	ENSP00000507751.1:p.Ile1238Arg
ENST00000683220.1:c.3740T>G	ENSP00000507151.1:p.Ile1247Arg
ENST00000683329.1:n.4513T>G
ENST00000683346.1:c.*3585T>G	ENSP00000507458.1:n.*3585T>G
ENST00000683409.1:n.2317T>G
ENST00000683459.1:n.4297T>G
ENST00000683528.1:c.638T>G
ENST00000683590.1:c.3458T>G	ENSP00000506820.1:p.Ile1153Arg
ENST00000683623.1:c.3617T>G	ENSP00000507702.1:p.Ile1206Arg
ENST00000683645.1:n.4261T>G
ENST00000683796.1:c.*3582T>G	ENSP00000508221.1:n.*3582T>G
ENST00000683802.1:n.6635T>G
ENST00000683833.1:c.3701T>G	ENSP00000506852.1:p.Ile1234Arg
ENST00000683994.1:c.3710T>G	ENSP00000507181.1:p.Ile1237Arg
ENST00000684290.1:c.*1246T>G	ENSP00000507243.1:n.*1246T>G
ENST00000684306.1:c.*3623T>G	ENSP00000508384.1:n.*3623T>G
ENST00000684341.1:n.3730T>G
ENST00000684383.1:c.*3348T>G	ENSP00000506863.1:n.*3348T>G
ENST00000684418.1:n.4891T>G
ENST00000684433.1:n.94T>G
ENST00000684454.1:n.3060T>G
ENST00000684619.1:c.*3582T>G	ENSP00000508088.1:n.*3582T>G
ENST00000684743.1:n.6455T>G
ENST00000260665.12:c.3710T>G MANE Select	ENSP00000260665.7:p.Ile1237Arg
ENST00000260665.11:c.3710T>G	ENSP00000260665.7:p.Ile1237Arg
ENST00000463456.5:n.2753T>G
ENST00000472420.5:n.107T>G
ENST00000483489.1:n.184T>G
NM_133259.3:c.3710T>G	NP_573566.2:p.Ile1237Arg
XM_006711915.2:c.3632T>G	XP_006711978.1:p.Ile1211Arg
XM_011532473.1:c.3710T>G	XP_011530775.1:p.Ile1237Arg
XM_011532474.1:c.3710T>G	XP_011530776.1:p.Ile1237Arg
XM_017003117.1:c.3632T>G	XP_016858606.1:p.Ile1211Arg
XR_002958896.1:n.3752T>G
NM_133259.4:c.3710T>G MANE Select	NP_573566.2:p.Ile1237Arg