Canonical Allele Identifier: CA346676594

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126428T>A (hg19) ; chr2:g.43899289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899289T>A , CM000664.2:g.43899289T>A	GRCh38
NC_000002.11:g.44126428T>A , CM000664.1:g.44126428T>A	GRCh37
NC_000002.10:g.43979932T>A	NCBI36
NG_008247.1:g.101717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.186A>T
ENST00000472420.6:n.834A>T
ENST00000483489.2:n.186A>T
ENST00000681993.1:n.1307A>T
ENST00000682303.1:c.*3541A>T	ENSP00000508325.1:n.*3541A>T
ENST00000682308.1:c.3755A>T	ENSP00000507056.1:p.Lys1252Ile
ENST00000682434.1:n.1306A>T
ENST00000682480.1:c.3773A>T	ENSP00000508344.1:p.Lys1258Ile
ENST00000682546.1:c.3752A>T	ENSP00000508188.1:p.Lys1251Ile
ENST00000682585.1:c.3755A>T	ENSP00000506885.1:p.Lys1252Ile
ENST00000682595.1:n.4339A>T
ENST00000682607.1:c.2173A>T
ENST00000682612.1:c.607A>T
ENST00000682779.1:c.3746A>T	ENSP00000507947.1:p.Lys1249Ile
ENST00000682845.1:n.2857A>T
ENST00000682885.1:c.3710A>T	ENSP00000508036.1:p.Lys1237Ile
ENST00000682933.1:n.3829A>T
ENST00000683002.1:c.607A>T
ENST00000683072.1:n.4339A>T
ENST00000683080.1:n.1374A>T
ENST00000683125.1:c.3863A>T	ENSP00000507939.1:p.Lys1288Ile
ENST00000683213.1:c.3758A>T	ENSP00000507751.1:p.Lys1253Ile
ENST00000683220.1:c.3785A>T	ENSP00000507151.1:p.Lys1262Ile
ENST00000683329.1:n.4558A>T
ENST00000683346.1:c.*3630A>T	ENSP00000507458.1:n.*3630A>T
ENST00000683409.1:n.2362A>T
ENST00000683459.1:n.4342A>T
ENST00000683528.1:c.683A>T
ENST00000683590.1:c.3503A>T	ENSP00000506820.1:p.Lys1168Ile
ENST00000683623.1:c.3662A>T	ENSP00000507702.1:p.Lys1221Ile
ENST00000683645.1:n.4306A>T
ENST00000683796.1:c.*3627A>T	ENSP00000508221.1:n.*3627A>T
ENST00000683802.1:n.6680A>T
ENST00000683833.1:c.3746A>T	ENSP00000506852.1:p.Lys1249Ile
ENST00000683994.1:c.3755A>T	ENSP00000507181.1:p.Lys1252Ile
ENST00000684290.1:c.*1291A>T	ENSP00000507243.1:n.*1291A>T
ENST00000684306.1:c.*3668A>T	ENSP00000508384.1:n.*3668A>T
ENST00000684341.1:n.3775A>T
ENST00000684383.1:c.*3393A>T	ENSP00000506863.1:n.*3393A>T
ENST00000684418.1:n.4936A>T
ENST00000684433.1:n.139A>T
ENST00000684454.1:n.3105A>T
ENST00000684619.1:c.*3627A>T	ENSP00000508088.1:n.*3627A>T
ENST00000684743.1:n.6500A>T
ENST00000260665.12:c.3755A>T MANE Select	ENSP00000260665.7:p.Lys1252Ile
ENST00000260665.11:c.3755A>T	ENSP00000260665.7:p.Lys1252Ile
ENST00000463456.5:n.2798A>T
ENST00000472420.5:n.152A>T
ENST00000483489.1:n.229A>T
NM_133259.3:c.3755A>T	NP_573566.2:p.Lys1252Ile
XM_006711915.2:c.3677A>T	XP_006711978.1:p.Lys1226Ile
XM_011532473.1:c.3755A>T	XP_011530775.1:p.Lys1252Ile
XM_011532474.1:c.3755A>T	XP_011530776.1:p.Lys1252Ile
XM_017003117.1:c.3677A>T	XP_016858606.1:p.Lys1226Ile
XR_002958896.1:n.3797A>T
NM_133259.4:c.3755A>T MANE Select	NP_573566.2:p.Lys1252Ile