Canonical Allele Identifier: CA346676482

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126399C>T (hg19) ; chr2:g.43899260C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899260C>T , CM000664.2:g.43899260C>T	GRCh38
NC_000002.11:g.44126399C>T , CM000664.1:g.44126399C>T	GRCh37
NC_000002.10:g.43979903C>T	NCBI36
NG_008247.1:g.101746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.215G>A
ENST00000472420.6:n.863G>A
ENST00000483489.2:n.215G>A
ENST00000681993.1:n.1336G>A
ENST00000682303.1:c.*3570G>A	ENSP00000508325.1:n.*3570G>A
ENST00000682308.1:c.3784G>A	ENSP00000507056.1:p.Val1262Met
ENST00000682434.1:n.1335G>A
ENST00000682480.1:c.3802G>A	ENSP00000508344.1:p.Val1268Met
ENST00000682546.1:c.3781G>A	ENSP00000508188.1:p.Val1261Met
ENST00000682585.1:c.3784G>A	ENSP00000506885.1:p.Val1262Met
ENST00000682595.1:n.4368G>A
ENST00000682607.1:c.2202G>A
ENST00000682612.1:c.636G>A
ENST00000682779.1:c.3775G>A	ENSP00000507947.1:p.Val1259Met
ENST00000682845.1:n.2886G>A
ENST00000682885.1:c.3739G>A	ENSP00000508036.1:p.Val1247Met
ENST00000682933.1:n.3858G>A
ENST00000683002.1:c.636G>A
ENST00000683072.1:n.4368G>A
ENST00000683080.1:n.1403G>A
ENST00000683125.1:c.3892G>A	ENSP00000507939.1:p.Val1298Met
ENST00000683213.1:c.3787G>A	ENSP00000507751.1:p.Val1263Met
ENST00000683220.1:c.3814G>A	ENSP00000507151.1:p.Val1272Met
ENST00000683329.1:n.4587G>A
ENST00000683346.1:c.*3659G>A	ENSP00000507458.1:n.*3659G>A
ENST00000683409.1:n.2391G>A
ENST00000683459.1:n.4371G>A
ENST00000683528.1:c.712G>A
ENST00000683590.1:c.3532G>A	ENSP00000506820.1:p.Val1178Met
ENST00000683623.1:c.3691G>A	ENSP00000507702.1:p.Val1231Met
ENST00000683645.1:n.4335G>A
ENST00000683796.1:c.*3656G>A	ENSP00000508221.1:n.*3656G>A
ENST00000683802.1:n.6709G>A
ENST00000683833.1:c.3775G>A	ENSP00000506852.1:p.Val1259Met
ENST00000683994.1:c.3784G>A	ENSP00000507181.1:p.Val1262Met
ENST00000684290.1:c.*1320G>A	ENSP00000507243.1:n.*1320G>A
ENST00000684306.1:c.*3697G>A	ENSP00000508384.1:n.*3697G>A
ENST00000684341.1:n.3804G>A
ENST00000684383.1:c.*3422G>A	ENSP00000506863.1:n.*3422G>A
ENST00000684418.1:n.4965G>A
ENST00000684433.1:n.168G>A
ENST00000684454.1:n.3134G>A
ENST00000684619.1:c.*3656G>A	ENSP00000508088.1:n.*3656G>A
ENST00000684743.1:n.6529G>A
ENST00000260665.12:c.3784G>A MANE Select	ENSP00000260665.7:p.Val1262Met
ENST00000260665.11:c.3784G>A	ENSP00000260665.7:p.Val1262Met
ENST00000419884.5:c.25G>A	ENSP00000414207.1:p.Val9Met
ENST00000463456.5:n.2827G>A
ENST00000472420.5:n.181G>A
ENST00000483489.1:n.258G>A
NM_133259.3:c.3784G>A	NP_573566.2:p.Val1262Met
XM_006711915.2:c.3706G>A	XP_006711978.1:p.Val1236Met
XM_011532473.1:c.3784G>A	XP_011530775.1:p.Val1262Met
XM_011532474.1:c.3784G>A	XP_011530776.1:p.Val1262Met
XM_017003117.1:c.3706G>A	XP_016858606.1:p.Val1236Met
XR_002958896.1:n.3826G>A
NM_133259.4:c.3784G>A MANE Select	NP_573566.2:p.Val1262Met