Canonical Allele Identifier: CA346676403

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126380T>A (hg19) ; chr2:g.43899241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899241T>A , CM000664.2:g.43899241T>A	GRCh38
NC_000002.11:g.44126380T>A , CM000664.1:g.44126380T>A	GRCh37
NC_000002.10:g.43979884T>A	NCBI36
NG_008247.1:g.101765A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.234A>T
ENST00000472420.6:n.882A>T
ENST00000483489.2:n.234A>T
ENST00000681993.1:n.1355A>T
ENST00000682303.1:c.*3589A>T	ENSP00000508325.1:n.*3589A>T
ENST00000682308.1:c.3803A>T	ENSP00000507056.1:p.Asp1268Val
ENST00000682434.1:n.1354A>T
ENST00000682480.1:c.3821A>T	ENSP00000508344.1:p.Asp1274Val
ENST00000682546.1:c.3800A>T	ENSP00000508188.1:p.Asp1267Val
ENST00000682585.1:c.3803A>T	ENSP00000506885.1:p.Asp1268Val
ENST00000682595.1:n.4387A>T
ENST00000682607.1:c.2221A>T
ENST00000682612.1:c.655A>T
ENST00000682779.1:c.3794A>T	ENSP00000507947.1:p.Asp1265Val
ENST00000682885.1:c.3758A>T	ENSP00000508036.1:p.Asp1253Val
ENST00000682933.1:n.3877A>T
ENST00000683002.1:c.655A>T
ENST00000683072.1:n.4387A>T
ENST00000683080.1:n.1422A>T
ENST00000683125.1:c.3911A>T	ENSP00000507939.1:p.Asp1304Val
ENST00000683213.1:c.3806A>T	ENSP00000507751.1:p.Asp1269Val
ENST00000683220.1:c.3833A>T	ENSP00000507151.1:p.Asp1278Val
ENST00000683329.1:n.4606A>T
ENST00000683346.1:c.*3678A>T	ENSP00000507458.1:n.*3678A>T
ENST00000683409.1:n.2410A>T
ENST00000683459.1:n.4390A>T
ENST00000683528.1:c.731A>T
ENST00000683590.1:c.3551A>T	ENSP00000506820.1:p.Asp1184Val
ENST00000683623.1:c.3710A>T	ENSP00000507702.1:p.Asp1237Val
ENST00000683645.1:n.4354A>T
ENST00000683796.1:c.*3675A>T	ENSP00000508221.1:n.*3675A>T
ENST00000683802.1:n.6728A>T
ENST00000683833.1:c.3794A>T	ENSP00000506852.1:p.Asp1265Val
ENST00000683994.1:c.3803A>T	ENSP00000507181.1:p.Asp1268Val
ENST00000684290.1:c.*1339A>T	ENSP00000507243.1:n.*1339A>T
ENST00000684306.1:c.*3716A>T	ENSP00000508384.1:n.*3716A>T
ENST00000684341.1:n.3823A>T
ENST00000684383.1:c.*3441A>T	ENSP00000506863.1:n.*3441A>T
ENST00000684418.1:n.4984A>T
ENST00000684433.1:n.187A>T
ENST00000684454.1:n.3153A>T
ENST00000684619.1:c.*3675A>T	ENSP00000508088.1:n.*3675A>T
ENST00000684743.1:n.6548A>T
ENST00000260665.12:c.3803A>T MANE Select	ENSP00000260665.7:p.Asp1268Val
ENST00000260665.11:c.3803A>T	ENSP00000260665.7:p.Asp1268Val
ENST00000419884.5:c.44A>T	ENSP00000414207.1:p.Asp15Val
ENST00000463456.5:n.2846A>T
ENST00000472420.5:n.200A>T
ENST00000483489.1:n.277A>T
NM_133259.3:c.3803A>T	NP_573566.2:p.Asp1268Val
XM_006711915.2:c.3725A>T	XP_006711978.1:p.Asp1242Val
XM_011532473.1:c.3803A>T	XP_011530775.1:p.Asp1268Val
XM_011532474.1:c.3803A>T	XP_011530776.1:p.Asp1268Val
XM_017003117.1:c.3725A>T	XP_016858606.1:p.Asp1242Val
XR_002958896.1:n.3845A>T
NM_133259.4:c.3803A>T MANE Select	NP_573566.2:p.Asp1268Val