Canonical Allele Identifier: CA346676506

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126405G>C (hg19) ; chr2:g.43899266G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899266G>C , CM000664.2:g.43899266G>C	GRCh38
NC_000002.11:g.44126405G>C , CM000664.1:g.44126405G>C	GRCh37
NC_000002.10:g.43979909G>C	NCBI36
NG_008247.1:g.101740C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.209C>G
ENST00000472420.6:n.857C>G
ENST00000483489.2:n.209C>G
ENST00000681993.1:n.1330C>G
ENST00000682303.1:c.*3564C>G	ENSP00000508325.1:n.*3564C>G
ENST00000682308.1:c.3778C>G	ENSP00000507056.1:p.Gln1260Glu
ENST00000682434.1:n.1329C>G
ENST00000682480.1:c.3796C>G	ENSP00000508344.1:p.Gln1266Glu
ENST00000682546.1:c.3775C>G	ENSP00000508188.1:p.Gln1259Glu
ENST00000682585.1:c.3778C>G	ENSP00000506885.1:p.Gln1260Glu
ENST00000682595.1:n.4362C>G
ENST00000682607.1:c.2196C>G
ENST00000682612.1:c.630C>G
ENST00000682779.1:c.3769C>G	ENSP00000507947.1:p.Gln1257Glu
ENST00000682845.1:n.2880C>G
ENST00000682885.1:c.3733C>G	ENSP00000508036.1:p.Gln1245Glu
ENST00000682933.1:n.3852C>G
ENST00000683002.1:c.630C>G
ENST00000683072.1:n.4362C>G
ENST00000683080.1:n.1397C>G
ENST00000683125.1:c.3886C>G	ENSP00000507939.1:p.Gln1296Glu
ENST00000683213.1:c.3781C>G	ENSP00000507751.1:p.Gln1261Glu
ENST00000683220.1:c.3808C>G	ENSP00000507151.1:p.Gln1270Glu
ENST00000683329.1:n.4581C>G
ENST00000683346.1:c.*3653C>G	ENSP00000507458.1:n.*3653C>G
ENST00000683409.1:n.2385C>G
ENST00000683459.1:n.4365C>G
ENST00000683528.1:c.706C>G
ENST00000683590.1:c.3526C>G	ENSP00000506820.1:p.Gln1176Glu
ENST00000683623.1:c.3685C>G	ENSP00000507702.1:p.Gln1229Glu
ENST00000683645.1:n.4329C>G
ENST00000683796.1:c.*3650C>G	ENSP00000508221.1:n.*3650C>G
ENST00000683802.1:n.6703C>G
ENST00000683833.1:c.3769C>G	ENSP00000506852.1:p.Gln1257Glu
ENST00000683994.1:c.3778C>G	ENSP00000507181.1:p.Gln1260Glu
ENST00000684290.1:c.*1314C>G	ENSP00000507243.1:n.*1314C>G
ENST00000684306.1:c.*3691C>G	ENSP00000508384.1:n.*3691C>G
ENST00000684341.1:n.3798C>G
ENST00000684383.1:c.*3416C>G	ENSP00000506863.1:n.*3416C>G
ENST00000684418.1:n.4959C>G
ENST00000684433.1:n.162C>G
ENST00000684454.1:n.3128C>G
ENST00000684619.1:c.*3650C>G	ENSP00000508088.1:n.*3650C>G
ENST00000684743.1:n.6523C>G
ENST00000260665.12:c.3778C>G MANE Select	ENSP00000260665.7:p.Gln1260Glu
ENST00000260665.11:c.3778C>G	ENSP00000260665.7:p.Gln1260Glu
ENST00000419884.5:c.19C>G	ENSP00000414207.1:p.Gln7Glu
ENST00000463456.5:n.2821C>G
ENST00000472420.5:n.175C>G
ENST00000483489.1:n.252C>G
NM_133259.3:c.3778C>G	NP_573566.2:p.Gln1260Glu
XM_006711915.2:c.3700C>G	XP_006711978.1:p.Gln1234Glu
XM_011532473.1:c.3778C>G	XP_011530775.1:p.Gln1260Glu
XM_011532474.1:c.3778C>G	XP_011530776.1:p.Gln1260Glu
XM_017003117.1:c.3700C>G	XP_016858606.1:p.Gln1234Glu
XR_002958896.1:n.3820C>G
NM_133259.4:c.3778C>G MANE Select	NP_573566.2:p.Gln1260Glu