Canonical Allele Identifier: CA346676581

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1670803238
• gnomAD v4: 2-43899284-C-T
• MyVariant Identifiers: chr2:g.44126423C>T (hg19) ; chr2:g.43899284C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899284C>T , CM000664.2:g.43899284C>T	GRCh38
NC_000002.11:g.44126423C>T , CM000664.1:g.44126423C>T	GRCh37
NC_000002.10:g.43979927C>T	NCBI36
NG_008247.1:g.101722G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.191G>A
ENST00000472420.6:n.839G>A
ENST00000483489.2:n.191G>A
ENST00000681993.1:n.1312G>A
ENST00000682303.1:c.*3546G>A	ENSP00000508325.1:n.*3546G>A
ENST00000682308.1:c.3760G>A	ENSP00000507056.1:p.Val1254Ile
ENST00000682434.1:n.1311G>A
ENST00000682480.1:c.3778G>A	ENSP00000508344.1:p.Val1260Ile
ENST00000682546.1:c.3757G>A	ENSP00000508188.1:p.Val1253Ile
ENST00000682585.1:c.3760G>A	ENSP00000506885.1:p.Val1254Ile
ENST00000682595.1:n.4344G>A
ENST00000682607.1:c.2178G>A
ENST00000682612.1:c.612G>A
ENST00000682779.1:c.3751G>A	ENSP00000507947.1:p.Val1251Ile
ENST00000682845.1:n.2862G>A
ENST00000682885.1:c.3715G>A	ENSP00000508036.1:p.Val1239Ile
ENST00000682933.1:n.3834G>A
ENST00000683002.1:c.612G>A
ENST00000683072.1:n.4344G>A
ENST00000683080.1:n.1379G>A
ENST00000683125.1:c.3868G>A	ENSP00000507939.1:p.Val1290Ile
ENST00000683213.1:c.3763G>A	ENSP00000507751.1:p.Val1255Ile
ENST00000683220.1:c.3790G>A	ENSP00000507151.1:p.Val1264Ile
ENST00000683329.1:n.4563G>A
ENST00000683346.1:c.*3635G>A	ENSP00000507458.1:n.*3635G>A
ENST00000683409.1:n.2367G>A
ENST00000683459.1:n.4347G>A
ENST00000683528.1:c.688G>A
ENST00000683590.1:c.3508G>A	ENSP00000506820.1:p.Val1170Ile
ENST00000683623.1:c.3667G>A	ENSP00000507702.1:p.Val1223Ile
ENST00000683645.1:n.4311G>A
ENST00000683796.1:c.*3632G>A	ENSP00000508221.1:n.*3632G>A
ENST00000683802.1:n.6685G>A
ENST00000683833.1:c.3751G>A	ENSP00000506852.1:p.Val1251Ile
ENST00000683994.1:c.3760G>A	ENSP00000507181.1:p.Val1254Ile
ENST00000684290.1:c.*1296G>A	ENSP00000507243.1:n.*1296G>A
ENST00000684306.1:c.*3673G>A	ENSP00000508384.1:n.*3673G>A
ENST00000684341.1:n.3780G>A
ENST00000684383.1:c.*3398G>A	ENSP00000506863.1:n.*3398G>A
ENST00000684418.1:n.4941G>A
ENST00000684433.1:n.144G>A
ENST00000684454.1:n.3110G>A
ENST00000684619.1:c.*3632G>A	ENSP00000508088.1:n.*3632G>A
ENST00000684743.1:n.6505G>A
ENST00000260665.12:c.3760G>A MANE Select	ENSP00000260665.7:p.Val1254Ile
ENST00000260665.11:c.3760G>A	ENSP00000260665.7:p.Val1254Ile
ENST00000419884.5:c.1G>A	ENSP00000414207.1:p.Val1Ile
ENST00000463456.5:n.2803G>A
ENST00000472420.5:n.157G>A
ENST00000483489.1:n.234G>A
NM_133259.3:c.3760G>A	NP_573566.2:p.Val1254Ile
XM_006711915.2:c.3682G>A	XP_006711978.1:p.Val1228Ile
XM_011532473.1:c.3760G>A	XP_011530775.1:p.Val1254Ile
XM_011532474.1:c.3760G>A	XP_011530776.1:p.Val1254Ile
XM_017003117.1:c.3682G>A	XP_016858606.1:p.Val1228Ile
XR_002958896.1:n.3802G>A
NM_133259.4:c.3760G>A MANE Select	NP_573566.2:p.Val1254Ile