Canonical Allele Identifier: CA346676500

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126404T>C (hg19) ; chr2:g.43899265T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899265T>C , CM000664.2:g.43899265T>C	GRCh38
NC_000002.11:g.44126404T>C , CM000664.1:g.44126404T>C	GRCh37
NC_000002.10:g.43979908T>C	NCBI36
NG_008247.1:g.101741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.210A>G
ENST00000472420.6:n.858A>G
ENST00000483489.2:n.210A>G
ENST00000681993.1:n.1331A>G
ENST00000682303.1:c.*3565A>G	ENSP00000508325.1:n.*3565A>G
ENST00000682308.1:c.3779A>G	ENSP00000507056.1:p.Gln1260Arg
ENST00000682434.1:n.1330A>G
ENST00000682480.1:c.3797A>G	ENSP00000508344.1:p.Gln1266Arg
ENST00000682546.1:c.3776A>G	ENSP00000508188.1:p.Gln1259Arg
ENST00000682585.1:c.3779A>G	ENSP00000506885.1:p.Gln1260Arg
ENST00000682595.1:n.4363A>G
ENST00000682607.1:c.2197A>G
ENST00000682612.1:c.631A>G
ENST00000682779.1:c.3770A>G	ENSP00000507947.1:p.Gln1257Arg
ENST00000682845.1:n.2881A>G
ENST00000682885.1:c.3734A>G	ENSP00000508036.1:p.Gln1245Arg
ENST00000682933.1:n.3853A>G
ENST00000683002.1:c.631A>G
ENST00000683072.1:n.4363A>G
ENST00000683080.1:n.1398A>G
ENST00000683125.1:c.3887A>G	ENSP00000507939.1:p.Gln1296Arg
ENST00000683213.1:c.3782A>G	ENSP00000507751.1:p.Gln1261Arg
ENST00000683220.1:c.3809A>G	ENSP00000507151.1:p.Gln1270Arg
ENST00000683329.1:n.4582A>G
ENST00000683346.1:c.*3654A>G	ENSP00000507458.1:n.*3654A>G
ENST00000683409.1:n.2386A>G
ENST00000683459.1:n.4366A>G
ENST00000683528.1:c.707A>G
ENST00000683590.1:c.3527A>G	ENSP00000506820.1:p.Gln1176Arg
ENST00000683623.1:c.3686A>G	ENSP00000507702.1:p.Gln1229Arg
ENST00000683645.1:n.4330A>G
ENST00000683796.1:c.*3651A>G	ENSP00000508221.1:n.*3651A>G
ENST00000683802.1:n.6704A>G
ENST00000683833.1:c.3770A>G	ENSP00000506852.1:p.Gln1257Arg
ENST00000683994.1:c.3779A>G	ENSP00000507181.1:p.Gln1260Arg
ENST00000684290.1:c.*1315A>G	ENSP00000507243.1:n.*1315A>G
ENST00000684306.1:c.*3692A>G	ENSP00000508384.1:n.*3692A>G
ENST00000684341.1:n.3799A>G
ENST00000684383.1:c.*3417A>G	ENSP00000506863.1:n.*3417A>G
ENST00000684418.1:n.4960A>G
ENST00000684433.1:n.163A>G
ENST00000684454.1:n.3129A>G
ENST00000684619.1:c.*3651A>G	ENSP00000508088.1:n.*3651A>G
ENST00000684743.1:n.6524A>G
ENST00000260665.12:c.3779A>G MANE Select	ENSP00000260665.7:p.Gln1260Arg
ENST00000260665.11:c.3779A>G	ENSP00000260665.7:p.Gln1260Arg
ENST00000419884.5:c.20A>G	ENSP00000414207.1:p.Gln7Arg
ENST00000463456.5:n.2822A>G
ENST00000472420.5:n.176A>G
ENST00000483489.1:n.253A>G
NM_133259.3:c.3779A>G	NP_573566.2:p.Gln1260Arg
XM_006711915.2:c.3701A>G	XP_006711978.1:p.Gln1234Arg
XM_011532473.1:c.3779A>G	XP_011530775.1:p.Gln1260Arg
XM_011532474.1:c.3779A>G	XP_011530776.1:p.Gln1260Arg
XM_017003117.1:c.3701A>G	XP_016858606.1:p.Gln1234Arg
XR_002958896.1:n.3821A>G
NM_133259.4:c.3779A>G MANE Select	NP_573566.2:p.Gln1260Arg