Canonical Allele Identifier: CA346676418

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126384C>A (hg19) ; chr2:g.43899245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899245C>A , CM000664.2:g.43899245C>A	GRCh38
NC_000002.11:g.44126384C>A , CM000664.1:g.44126384C>A	GRCh37
NC_000002.10:g.43979888C>A	NCBI36
NG_008247.1:g.101761G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.230G>T
ENST00000472420.6:n.878G>T
ENST00000483489.2:n.230G>T
ENST00000681993.1:n.1351G>T
ENST00000682303.1:c.*3585G>T	ENSP00000508325.1:n.*3585G>T
ENST00000682308.1:c.3799G>T	ENSP00000507056.1:p.Val1267Leu
ENST00000682434.1:n.1350G>T
ENST00000682480.1:c.3817G>T	ENSP00000508344.1:p.Val1273Leu
ENST00000682546.1:c.3796G>T	ENSP00000508188.1:p.Val1266Leu
ENST00000682585.1:c.3799G>T	ENSP00000506885.1:p.Val1267Leu
ENST00000682595.1:n.4383G>T
ENST00000682607.1:c.2217G>T
ENST00000682612.1:c.651G>T
ENST00000682779.1:c.3790G>T	ENSP00000507947.1:p.Val1264Leu
ENST00000682845.1:n.2901G>T
ENST00000682885.1:c.3754G>T	ENSP00000508036.1:p.Val1252Leu
ENST00000682933.1:n.3873G>T
ENST00000683002.1:c.651G>T
ENST00000683072.1:n.4383G>T
ENST00000683080.1:n.1418G>T
ENST00000683125.1:c.3907G>T	ENSP00000507939.1:p.Val1303Leu
ENST00000683213.1:c.3802G>T	ENSP00000507751.1:p.Val1268Leu
ENST00000683220.1:c.3829G>T	ENSP00000507151.1:p.Val1277Leu
ENST00000683329.1:n.4602G>T
ENST00000683346.1:c.*3674G>T	ENSP00000507458.1:n.*3674G>T
ENST00000683409.1:n.2406G>T
ENST00000683459.1:n.4386G>T
ENST00000683528.1:c.727G>T
ENST00000683590.1:c.3547G>T	ENSP00000506820.1:p.Val1183Leu
ENST00000683623.1:c.3706G>T	ENSP00000507702.1:p.Val1236Leu
ENST00000683645.1:n.4350G>T
ENST00000683796.1:c.*3671G>T	ENSP00000508221.1:n.*3671G>T
ENST00000683802.1:n.6724G>T
ENST00000683833.1:c.3790G>T	ENSP00000506852.1:p.Val1264Leu
ENST00000683994.1:c.3799G>T	ENSP00000507181.1:p.Val1267Leu
ENST00000684290.1:c.*1335G>T	ENSP00000507243.1:n.*1335G>T
ENST00000684306.1:c.*3712G>T	ENSP00000508384.1:n.*3712G>T
ENST00000684341.1:n.3819G>T
ENST00000684383.1:c.*3437G>T	ENSP00000506863.1:n.*3437G>T
ENST00000684418.1:n.4980G>T
ENST00000684433.1:n.183G>T
ENST00000684454.1:n.3149G>T
ENST00000684619.1:c.*3671G>T	ENSP00000508088.1:n.*3671G>T
ENST00000684743.1:n.6544G>T
ENST00000260665.12:c.3799G>T MANE Select	ENSP00000260665.7:p.Val1267Leu
ENST00000260665.11:c.3799G>T	ENSP00000260665.7:p.Val1267Leu
ENST00000419884.5:c.40G>T	ENSP00000414207.1:p.Val14Leu
ENST00000463456.5:n.2842G>T
ENST00000472420.5:n.196G>T
ENST00000483489.1:n.273G>T
NM_133259.3:c.3799G>T	NP_573566.2:p.Val1267Leu
XM_006711915.2:c.3721G>T	XP_006711978.1:p.Val1241Leu
XM_011532473.1:c.3799G>T	XP_011530775.1:p.Val1267Leu
XM_011532474.1:c.3799G>T	XP_011530776.1:p.Val1267Leu
XM_017003117.1:c.3721G>T	XP_016858606.1:p.Val1241Leu
XR_002958896.1:n.3841G>T
NM_133259.4:c.3799G>T MANE Select	NP_573566.2:p.Val1267Leu