Canonical Allele Identifier: CA346676672

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.170C>A
ENST00000472420.6:n.818C>A
ENST00000483489.2:n.170C>A
ENST00000681993.1:n.1291C>A
ENST00000682303.1:c.*3525C>A	ENSP00000508325.1:n.*3525C>A
ENST00000682308.1:c.3739C>A	ENSP00000507056.1:p.Gln1247Lys
ENST00000682434.1:n.1290C>A
ENST00000682480.1:c.3757C>A	ENSP00000508344.1:p.Gln1253Lys
ENST00000682546.1:c.3736C>A	ENSP00000508188.1:p.Gln1246Lys
ENST00000682585.1:c.3739C>A	ENSP00000506885.1:p.Gln1247Lys
ENST00000682595.1:n.4323C>A
ENST00000682607.1:c.2157C>A
ENST00000682612.1:c.591C>A
ENST00000682779.1:c.3730C>A	ENSP00000507947.1:p.Gln1244Lys
ENST00000682845.1:n.2841C>A
ENST00000682885.1:c.3694C>A	ENSP00000508036.1:p.Gln1232Lys
ENST00000682933.1:n.3813C>A
ENST00000683002.1:c.591C>A
ENST00000683072.1:n.4323C>A
ENST00000683080.1:n.1358C>A
ENST00000683125.1:c.3847C>A	ENSP00000507939.1:p.Gln1283Lys
ENST00000683213.1:c.3742C>A	ENSP00000507751.1:p.Gln1248Lys
ENST00000683220.1:c.3769C>A	ENSP00000507151.1:p.Gln1257Lys
ENST00000683329.1:n.4542C>A
ENST00000683346.1:c.*3614C>A	ENSP00000507458.1:n.*3614C>A
ENST00000683409.1:n.2346C>A
ENST00000683459.1:n.4326C>A
ENST00000683528.1:c.667C>A
ENST00000683590.1:c.3487C>A	ENSP00000506820.1:p.Gln1163Lys
ENST00000683623.1:c.3646C>A	ENSP00000507702.1:p.Gln1216Lys
ENST00000683645.1:n.4290C>A
ENST00000683796.1:c.*3611C>A	ENSP00000508221.1:n.*3611C>A
ENST00000683802.1:n.6664C>A
ENST00000683833.1:c.3730C>A	ENSP00000506852.1:p.Gln1244Lys
ENST00000683994.1:c.3739C>A	ENSP00000507181.1:p.Gln1247Lys
ENST00000684290.1:c.*1275C>A	ENSP00000507243.1:n.*1275C>A
ENST00000684306.1:c.*3652C>A	ENSP00000508384.1:n.*3652C>A
ENST00000684341.1:n.3759C>A
ENST00000684383.1:c.*3377C>A	ENSP00000506863.1:n.*3377C>A
ENST00000684418.1:n.4920C>A
ENST00000684433.1:n.123C>A
ENST00000684454.1:n.3089C>A
ENST00000684619.1:c.*3611C>A	ENSP00000508088.1:n.*3611C>A
ENST00000684743.1:n.6484C>A
ENST00000260665.12:c.3739C>A MANE Select	ENSP00000260665.7:p.Gln1247Lys
ENST00000260665.11:c.3739C>A	ENSP00000260665.7:p.Gln1247Lys
ENST00000463456.5:n.2782C>A
ENST00000472420.5:n.136C>A
ENST00000483489.1:n.213C>A
NM_133259.3:c.3739C>A	NP_573566.2:p.Gln1247Lys
XM_006711915.2:c.3661C>A	XP_006711978.1:p.Gln1221Lys
XM_011532473.1:c.3739C>A	XP_011530775.1:p.Gln1247Lys
XM_011532474.1:c.3739C>A	XP_011530776.1:p.Gln1247Lys
XM_017003117.1:c.3661C>A	XP_016858606.1:p.Gln1221Lys
XR_002958896.1:n.3781C>A
NM_133259.4:c.3739C>A MANE Select	NP_573566.2:p.Gln1247Lys