Canonical Allele Identifier: CA346676664

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126443T>A (hg19) ; chr2:g.43899304T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899304T>A , CM000664.2:g.43899304T>A	GRCh38
NC_000002.11:g.44126443T>A , CM000664.1:g.44126443T>A	GRCh37
NC_000002.10:g.43979947T>A	NCBI36
NG_008247.1:g.101702A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.171A>T
ENST00000472420.6:n.819A>T
ENST00000483489.2:n.171A>T
ENST00000681993.1:n.1292A>T
ENST00000682303.1:c.*3526A>T	ENSP00000508325.1:n.*3526A>T
ENST00000682308.1:c.3740A>T	ENSP00000507056.1:p.Gln1247Leu
ENST00000682434.1:n.1291A>T
ENST00000682480.1:c.3758A>T	ENSP00000508344.1:p.Gln1253Leu
ENST00000682546.1:c.3737A>T	ENSP00000508188.1:p.Gln1246Leu
ENST00000682585.1:c.3740A>T	ENSP00000506885.1:p.Gln1247Leu
ENST00000682595.1:n.4324A>T
ENST00000682607.1:c.2158A>T
ENST00000682612.1:c.592A>T
ENST00000682779.1:c.3731A>T	ENSP00000507947.1:p.Gln1244Leu
ENST00000682845.1:n.2842A>T
ENST00000682885.1:c.3695A>T	ENSP00000508036.1:p.Gln1232Leu
ENST00000682933.1:n.3814A>T
ENST00000683002.1:c.592A>T
ENST00000683072.1:n.4324A>T
ENST00000683080.1:n.1359A>T
ENST00000683125.1:c.3848A>T	ENSP00000507939.1:p.Gln1283Leu
ENST00000683213.1:c.3743A>T	ENSP00000507751.1:p.Gln1248Leu
ENST00000683220.1:c.3770A>T	ENSP00000507151.1:p.Gln1257Leu
ENST00000683329.1:n.4543A>T
ENST00000683346.1:c.*3615A>T	ENSP00000507458.1:n.*3615A>T
ENST00000683409.1:n.2347A>T
ENST00000683459.1:n.4327A>T
ENST00000683528.1:c.668A>T
ENST00000683590.1:c.3488A>T	ENSP00000506820.1:p.Gln1163Leu
ENST00000683623.1:c.3647A>T	ENSP00000507702.1:p.Gln1216Leu
ENST00000683645.1:n.4291A>T
ENST00000683796.1:c.*3612A>T	ENSP00000508221.1:n.*3612A>T
ENST00000683802.1:n.6665A>T
ENST00000683833.1:c.3731A>T	ENSP00000506852.1:p.Gln1244Leu
ENST00000683994.1:c.3740A>T	ENSP00000507181.1:p.Gln1247Leu
ENST00000684290.1:c.*1276A>T	ENSP00000507243.1:n.*1276A>T
ENST00000684306.1:c.*3653A>T	ENSP00000508384.1:n.*3653A>T
ENST00000684341.1:n.3760A>T
ENST00000684383.1:c.*3378A>T	ENSP00000506863.1:n.*3378A>T
ENST00000684418.1:n.4921A>T
ENST00000684433.1:n.124A>T
ENST00000684454.1:n.3090A>T
ENST00000684619.1:c.*3612A>T	ENSP00000508088.1:n.*3612A>T
ENST00000684743.1:n.6485A>T
ENST00000260665.12:c.3740A>T MANE Select	ENSP00000260665.7:p.Gln1247Leu
ENST00000260665.11:c.3740A>T	ENSP00000260665.7:p.Gln1247Leu
ENST00000463456.5:n.2783A>T
ENST00000472420.5:n.137A>T
ENST00000483489.1:n.214A>T
NM_133259.3:c.3740A>T	NP_573566.2:p.Gln1247Leu
XM_006711915.2:c.3662A>T	XP_006711978.1:p.Gln1221Leu
XM_011532473.1:c.3740A>T	XP_011530775.1:p.Gln1247Leu
XM_011532474.1:c.3740A>T	XP_011530776.1:p.Gln1247Leu
XM_017003117.1:c.3662A>T	XP_016858606.1:p.Gln1221Leu
XR_002958896.1:n.3782A>T
NM_133259.4:c.3740A>T MANE Select	NP_573566.2:p.Gln1247Leu