Canonical Allele Identifier: CA346676493

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126403T>A (hg19) ; chr2:g.43899264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899264T>A , CM000664.2:g.43899264T>A	GRCh38
NC_000002.11:g.44126403T>A , CM000664.1:g.44126403T>A	GRCh37
NC_000002.10:g.43979907T>A	NCBI36
NG_008247.1:g.101742A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.211A>T
ENST00000472420.6:n.859A>T
ENST00000483489.2:n.211A>T
ENST00000681993.1:n.1332A>T
ENST00000682303.1:c.*3566A>T	ENSP00000508325.1:n.*3566A>T
ENST00000682308.1:c.3780A>T	ENSP00000507056.1:p.Gln1260His
ENST00000682434.1:n.1331A>T
ENST00000682480.1:c.3798A>T	ENSP00000508344.1:p.Gln1266His
ENST00000682546.1:c.3777A>T	ENSP00000508188.1:p.Gln1259His
ENST00000682585.1:c.3780A>T	ENSP00000506885.1:p.Gln1260His
ENST00000682595.1:n.4364A>T
ENST00000682607.1:c.2198A>T
ENST00000682612.1:c.632A>T
ENST00000682779.1:c.3771A>T	ENSP00000507947.1:p.Gln1257His
ENST00000682845.1:n.2882A>T
ENST00000682885.1:c.3735A>T	ENSP00000508036.1:p.Gln1245His
ENST00000682933.1:n.3854A>T
ENST00000683002.1:c.632A>T
ENST00000683072.1:n.4364A>T
ENST00000683080.1:n.1399A>T
ENST00000683125.1:c.3888A>T	ENSP00000507939.1:p.Gln1296His
ENST00000683213.1:c.3783A>T	ENSP00000507751.1:p.Gln1261His
ENST00000683220.1:c.3810A>T	ENSP00000507151.1:p.Gln1270His
ENST00000683329.1:n.4583A>T
ENST00000683346.1:c.*3655A>T	ENSP00000507458.1:n.*3655A>T
ENST00000683409.1:n.2387A>T
ENST00000683459.1:n.4367A>T
ENST00000683528.1:c.708A>T
ENST00000683590.1:c.3528A>T	ENSP00000506820.1:p.Gln1176His
ENST00000683623.1:c.3687A>T	ENSP00000507702.1:p.Gln1229His
ENST00000683645.1:n.4331A>T
ENST00000683796.1:c.*3652A>T	ENSP00000508221.1:n.*3652A>T
ENST00000683802.1:n.6705A>T
ENST00000683833.1:c.3771A>T	ENSP00000506852.1:p.Gln1257His
ENST00000683994.1:c.3780A>T	ENSP00000507181.1:p.Gln1260His
ENST00000684290.1:c.*1316A>T	ENSP00000507243.1:n.*1316A>T
ENST00000684306.1:c.*3693A>T	ENSP00000508384.1:n.*3693A>T
ENST00000684341.1:n.3800A>T
ENST00000684383.1:c.*3418A>T	ENSP00000506863.1:n.*3418A>T
ENST00000684418.1:n.4961A>T
ENST00000684433.1:n.164A>T
ENST00000684454.1:n.3130A>T
ENST00000684619.1:c.*3652A>T	ENSP00000508088.1:n.*3652A>T
ENST00000684743.1:n.6525A>T
ENST00000260665.12:c.3780A>T MANE Select	ENSP00000260665.7:p.Gln1260His
ENST00000260665.11:c.3780A>T	ENSP00000260665.7:p.Gln1260His
ENST00000419884.5:c.21A>T	ENSP00000414207.1:p.Gln7His
ENST00000463456.5:n.2823A>T
ENST00000472420.5:n.177A>T
ENST00000483489.1:n.254A>T
NM_133259.3:c.3780A>T	NP_573566.2:p.Gln1260His
XM_006711915.2:c.3702A>T	XP_006711978.1:p.Gln1234His
XM_011532473.1:c.3780A>T	XP_011530775.1:p.Gln1260His
XM_011532474.1:c.3780A>T	XP_011530776.1:p.Gln1260His
XM_017003117.1:c.3702A>T	XP_016858606.1:p.Gln1234His
XR_002958896.1:n.3822A>T
NM_133259.4:c.3780A>T MANE Select	NP_573566.2:p.Gln1260His