Canonical Allele Identifier: CA346676671

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126444G>C (hg19) ; chr2:g.43899305G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899305G>C , CM000664.2:g.43899305G>C	GRCh38
NC_000002.11:g.44126444G>C , CM000664.1:g.44126444G>C	GRCh37
NC_000002.10:g.43979948G>C	NCBI36
NG_008247.1:g.101701C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.170C>G
ENST00000472420.6:n.818C>G
ENST00000483489.2:n.170C>G
ENST00000681993.1:n.1291C>G
ENST00000682303.1:c.*3525C>G	ENSP00000508325.1:n.*3525C>G
ENST00000682308.1:c.3739C>G	ENSP00000507056.1:p.Gln1247Glu
ENST00000682434.1:n.1290C>G
ENST00000682480.1:c.3757C>G	ENSP00000508344.1:p.Gln1253Glu
ENST00000682546.1:c.3736C>G	ENSP00000508188.1:p.Gln1246Glu
ENST00000682585.1:c.3739C>G	ENSP00000506885.1:p.Gln1247Glu
ENST00000682595.1:n.4323C>G
ENST00000682607.1:c.2157C>G
ENST00000682612.1:c.591C>G
ENST00000682779.1:c.3730C>G	ENSP00000507947.1:p.Gln1244Glu
ENST00000682845.1:n.2841C>G
ENST00000682885.1:c.3694C>G	ENSP00000508036.1:p.Gln1232Glu
ENST00000682933.1:n.3813C>G
ENST00000683002.1:c.591C>G
ENST00000683072.1:n.4323C>G
ENST00000683080.1:n.1358C>G
ENST00000683125.1:c.3847C>G	ENSP00000507939.1:p.Gln1283Glu
ENST00000683213.1:c.3742C>G	ENSP00000507751.1:p.Gln1248Glu
ENST00000683220.1:c.3769C>G	ENSP00000507151.1:p.Gln1257Glu
ENST00000683329.1:n.4542C>G
ENST00000683346.1:c.*3614C>G	ENSP00000507458.1:n.*3614C>G
ENST00000683409.1:n.2346C>G
ENST00000683459.1:n.4326C>G
ENST00000683528.1:c.667C>G
ENST00000683590.1:c.3487C>G	ENSP00000506820.1:p.Gln1163Glu
ENST00000683623.1:c.3646C>G	ENSP00000507702.1:p.Gln1216Glu
ENST00000683645.1:n.4290C>G
ENST00000683796.1:c.*3611C>G	ENSP00000508221.1:n.*3611C>G
ENST00000683802.1:n.6664C>G
ENST00000683833.1:c.3730C>G	ENSP00000506852.1:p.Gln1244Glu
ENST00000683994.1:c.3739C>G	ENSP00000507181.1:p.Gln1247Glu
ENST00000684290.1:c.*1275C>G	ENSP00000507243.1:n.*1275C>G
ENST00000684306.1:c.*3652C>G	ENSP00000508384.1:n.*3652C>G
ENST00000684341.1:n.3759C>G
ENST00000684383.1:c.*3377C>G	ENSP00000506863.1:n.*3377C>G
ENST00000684418.1:n.4920C>G
ENST00000684433.1:n.123C>G
ENST00000684454.1:n.3089C>G
ENST00000684619.1:c.*3611C>G	ENSP00000508088.1:n.*3611C>G
ENST00000684743.1:n.6484C>G
ENST00000260665.12:c.3739C>G MANE Select	ENSP00000260665.7:p.Gln1247Glu
ENST00000260665.11:c.3739C>G	ENSP00000260665.7:p.Gln1247Glu
ENST00000463456.5:n.2782C>G
ENST00000472420.5:n.136C>G
ENST00000483489.1:n.213C>G
NM_133259.3:c.3739C>G	NP_573566.2:p.Gln1247Glu
XM_006711915.2:c.3661C>G	XP_006711978.1:p.Gln1221Glu
XM_011532473.1:c.3739C>G	XP_011530775.1:p.Gln1247Glu
XM_011532474.1:c.3739C>G	XP_011530776.1:p.Gln1247Glu
XM_017003117.1:c.3661C>G	XP_016858606.1:p.Gln1221Glu
XR_002958896.1:n.3781C>G
NM_133259.4:c.3739C>G MANE Select	NP_573566.2:p.Gln1247Glu