Canonical Allele Identifier: CA346676725

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126456T>C (hg19) ; chr2:g.43899317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899317T>C , CM000664.2:g.43899317T>C	GRCh38
NC_000002.11:g.44126456T>C , CM000664.1:g.44126456T>C	GRCh37
NC_000002.10:g.43979960T>C	NCBI36
NG_008247.1:g.101689A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.158A>G
ENST00000472420.6:n.806A>G
ENST00000483489.2:n.158A>G
ENST00000681993.1:n.1279A>G
ENST00000682303.1:c.*3513A>G	ENSP00000508325.1:n.*3513A>G
ENST00000682308.1:c.3727A>G	ENSP00000507056.1:p.Arg1243Gly
ENST00000682434.1:n.1278A>G
ENST00000682480.1:c.3745A>G	ENSP00000508344.1:p.Arg1249Gly
ENST00000682546.1:c.3724A>G	ENSP00000508188.1:p.Arg1242Gly
ENST00000682585.1:c.3727A>G	ENSP00000506885.1:p.Arg1243Gly
ENST00000682595.1:n.4311A>G
ENST00000682607.1:c.2145A>G
ENST00000682612.1:c.579A>G
ENST00000682779.1:c.3718A>G	ENSP00000507947.1:p.Arg1240Gly
ENST00000682845.1:n.2829A>G
ENST00000682885.1:c.3682A>G	ENSP00000508036.1:p.Arg1228Gly
ENST00000682933.1:n.3801A>G
ENST00000683002.1:c.579A>G
ENST00000683072.1:n.4311A>G
ENST00000683080.1:n.1346A>G
ENST00000683125.1:c.3835A>G	ENSP00000507939.1:p.Arg1279Gly
ENST00000683213.1:c.3730A>G	ENSP00000507751.1:p.Arg1244Gly
ENST00000683220.1:c.3757A>G	ENSP00000507151.1:p.Arg1253Gly
ENST00000683329.1:n.4530A>G
ENST00000683346.1:c.*3602A>G	ENSP00000507458.1:n.*3602A>G
ENST00000683409.1:n.2334A>G
ENST00000683459.1:n.4314A>G
ENST00000683528.1:c.655A>G
ENST00000683590.1:c.3475A>G	ENSP00000506820.1:p.Arg1159Gly
ENST00000683623.1:c.3634A>G	ENSP00000507702.1:p.Arg1212Gly
ENST00000683645.1:n.4278A>G
ENST00000683796.1:c.*3599A>G	ENSP00000508221.1:n.*3599A>G
ENST00000683802.1:n.6652A>G
ENST00000683833.1:c.3718A>G	ENSP00000506852.1:p.Arg1240Gly
ENST00000683994.1:c.3727A>G	ENSP00000507181.1:p.Arg1243Gly
ENST00000684290.1:c.*1263A>G	ENSP00000507243.1:n.*1263A>G
ENST00000684306.1:c.*3640A>G	ENSP00000508384.1:n.*3640A>G
ENST00000684341.1:n.3747A>G
ENST00000684383.1:c.*3365A>G	ENSP00000506863.1:n.*3365A>G
ENST00000684418.1:n.4908A>G
ENST00000684433.1:n.111A>G
ENST00000684454.1:n.3077A>G
ENST00000684619.1:c.*3599A>G	ENSP00000508088.1:n.*3599A>G
ENST00000684743.1:n.6472A>G
ENST00000260665.12:c.3727A>G MANE Select	ENSP00000260665.7:p.Arg1243Gly
ENST00000260665.11:c.3727A>G	ENSP00000260665.7:p.Arg1243Gly
ENST00000463456.5:n.2770A>G
ENST00000472420.5:n.124A>G
ENST00000483489.1:n.201A>G
NM_133259.3:c.3727A>G	NP_573566.2:p.Arg1243Gly
XM_006711915.2:c.3649A>G	XP_006711978.1:p.Arg1217Gly
XM_011532473.1:c.3727A>G	XP_011530775.1:p.Arg1243Gly
XM_011532474.1:c.3727A>G	XP_011530776.1:p.Arg1243Gly
XM_017003117.1:c.3649A>G	XP_016858606.1:p.Arg1217Gly
XR_002958896.1:n.3769A>G
NM_133259.4:c.3727A>G MANE Select	NP_573566.2:p.Arg1243Gly