Canonical Allele Identifier: CA346676596

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.186A>C
ENST00000472420.6:n.834A>C
ENST00000483489.2:n.186A>C
ENST00000681993.1:n.1307A>C
ENST00000682303.1:c.*3541A>C	ENSP00000508325.1:n.*3541A>C
ENST00000682308.1:c.3755A>C	ENSP00000507056.1:p.Lys1252Thr
ENST00000682434.1:n.1306A>C
ENST00000682480.1:c.3773A>C	ENSP00000508344.1:p.Lys1258Thr
ENST00000682546.1:c.3752A>C	ENSP00000508188.1:p.Lys1251Thr
ENST00000682585.1:c.3755A>C	ENSP00000506885.1:p.Lys1252Thr
ENST00000682595.1:n.4339A>C
ENST00000682607.1:c.2173A>C
ENST00000682612.1:c.607A>C
ENST00000682779.1:c.3746A>C	ENSP00000507947.1:p.Lys1249Thr
ENST00000682845.1:n.2857A>C
ENST00000682885.1:c.3710A>C	ENSP00000508036.1:p.Lys1237Thr
ENST00000682933.1:n.3829A>C
ENST00000683002.1:c.607A>C
ENST00000683072.1:n.4339A>C
ENST00000683080.1:n.1374A>C
ENST00000683125.1:c.3863A>C	ENSP00000507939.1:p.Lys1288Thr
ENST00000683213.1:c.3758A>C	ENSP00000507751.1:p.Lys1253Thr
ENST00000683220.1:c.3785A>C	ENSP00000507151.1:p.Lys1262Thr
ENST00000683329.1:n.4558A>C
ENST00000683346.1:c.*3630A>C	ENSP00000507458.1:n.*3630A>C
ENST00000683409.1:n.2362A>C
ENST00000683459.1:n.4342A>C
ENST00000683528.1:c.683A>C
ENST00000683590.1:c.3503A>C	ENSP00000506820.1:p.Lys1168Thr
ENST00000683623.1:c.3662A>C	ENSP00000507702.1:p.Lys1221Thr
ENST00000683645.1:n.4306A>C
ENST00000683796.1:c.*3627A>C	ENSP00000508221.1:n.*3627A>C
ENST00000683802.1:n.6680A>C
ENST00000683833.1:c.3746A>C	ENSP00000506852.1:p.Lys1249Thr
ENST00000683994.1:c.3755A>C	ENSP00000507181.1:p.Lys1252Thr
ENST00000684290.1:c.*1291A>C	ENSP00000507243.1:n.*1291A>C
ENST00000684306.1:c.*3668A>C	ENSP00000508384.1:n.*3668A>C
ENST00000684341.1:n.3775A>C
ENST00000684383.1:c.*3393A>C	ENSP00000506863.1:n.*3393A>C
ENST00000684418.1:n.4936A>C
ENST00000684433.1:n.139A>C
ENST00000684454.1:n.3105A>C
ENST00000684619.1:c.*3627A>C	ENSP00000508088.1:n.*3627A>C
ENST00000684743.1:n.6500A>C
ENST00000260665.12:c.3755A>C MANE Select	ENSP00000260665.7:p.Lys1252Thr
ENST00000260665.11:c.3755A>C	ENSP00000260665.7:p.Lys1252Thr
ENST00000463456.5:n.2798A>C
ENST00000472420.5:n.152A>C
ENST00000483489.1:n.229A>C
NM_133259.3:c.3755A>C	NP_573566.2:p.Lys1252Thr
XM_006711915.2:c.3677A>C	XP_006711978.1:p.Lys1226Thr
XM_011532473.1:c.3755A>C	XP_011530775.1:p.Lys1252Thr
XM_011532474.1:c.3755A>C	XP_011530776.1:p.Lys1252Thr
XM_017003117.1:c.3677A>C	XP_016858606.1:p.Lys1226Thr
XR_002958896.1:n.3797A>C
NM_133259.4:c.3755A>C MANE Select	NP_573566.2:p.Lys1252Thr