Canonical Allele Identifier: CA346676478

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.215G>T
ENST00000472420.6:n.863G>T
ENST00000483489.2:n.215G>T
ENST00000681993.1:n.1336G>T
ENST00000682303.1:c.*3570G>T	ENSP00000508325.1:n.*3570G>T
ENST00000682308.1:c.3784G>T	ENSP00000507056.1:p.Val1262Leu
ENST00000682434.1:n.1335G>T
ENST00000682480.1:c.3802G>T	ENSP00000508344.1:p.Val1268Leu
ENST00000682546.1:c.3781G>T	ENSP00000508188.1:p.Val1261Leu
ENST00000682585.1:c.3784G>T	ENSP00000506885.1:p.Val1262Leu
ENST00000682595.1:n.4368G>T
ENST00000682607.1:c.2202G>T
ENST00000682612.1:c.636G>T
ENST00000682779.1:c.3775G>T	ENSP00000507947.1:p.Val1259Leu
ENST00000682845.1:n.2886G>T
ENST00000682885.1:c.3739G>T	ENSP00000508036.1:p.Val1247Leu
ENST00000682933.1:n.3858G>T
ENST00000683002.1:c.636G>T
ENST00000683072.1:n.4368G>T
ENST00000683080.1:n.1403G>T
ENST00000683125.1:c.3892G>T	ENSP00000507939.1:p.Val1298Leu
ENST00000683213.1:c.3787G>T	ENSP00000507751.1:p.Val1263Leu
ENST00000683220.1:c.3814G>T	ENSP00000507151.1:p.Val1272Leu
ENST00000683329.1:n.4587G>T
ENST00000683346.1:c.*3659G>T	ENSP00000507458.1:n.*3659G>T
ENST00000683409.1:n.2391G>T
ENST00000683459.1:n.4371G>T
ENST00000683528.1:c.712G>T
ENST00000683590.1:c.3532G>T	ENSP00000506820.1:p.Val1178Leu
ENST00000683623.1:c.3691G>T	ENSP00000507702.1:p.Val1231Leu
ENST00000683645.1:n.4335G>T
ENST00000683796.1:c.*3656G>T	ENSP00000508221.1:n.*3656G>T
ENST00000683802.1:n.6709G>T
ENST00000683833.1:c.3775G>T	ENSP00000506852.1:p.Val1259Leu
ENST00000683994.1:c.3784G>T	ENSP00000507181.1:p.Val1262Leu
ENST00000684290.1:c.*1320G>T	ENSP00000507243.1:n.*1320G>T
ENST00000684306.1:c.*3697G>T	ENSP00000508384.1:n.*3697G>T
ENST00000684341.1:n.3804G>T
ENST00000684383.1:c.*3422G>T	ENSP00000506863.1:n.*3422G>T
ENST00000684418.1:n.4965G>T
ENST00000684433.1:n.168G>T
ENST00000684454.1:n.3134G>T
ENST00000684619.1:c.*3656G>T	ENSP00000508088.1:n.*3656G>T
ENST00000684743.1:n.6529G>T
ENST00000260665.12:c.3784G>T MANE Select	ENSP00000260665.7:p.Val1262Leu
ENST00000260665.11:c.3784G>T	ENSP00000260665.7:p.Val1262Leu
ENST00000419884.5:c.25G>T	ENSP00000414207.1:p.Val9Leu
ENST00000463456.5:n.2827G>T
ENST00000472420.5:n.181G>T
ENST00000483489.1:n.258G>T
NM_133259.3:c.3784G>T	NP_573566.2:p.Val1262Leu
XM_006711915.2:c.3706G>T	XP_006711978.1:p.Val1236Leu
XM_011532473.1:c.3784G>T	XP_011530775.1:p.Val1262Leu
XM_011532474.1:c.3784G>T	XP_011530776.1:p.Val1262Leu
XM_017003117.1:c.3706G>T	XP_016858606.1:p.Val1236Leu
XR_002958896.1:n.3826G>T
NM_133259.4:c.3784G>T MANE Select	NP_573566.2:p.Val1262Leu