Canonical Allele Identifier: CA346676546

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44126413A>T (hg19) ; chr2:g.43899274A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43899274A>T , CM000664.2:g.43899274A>T	GRCh38
NC_000002.11:g.44126413A>T , CM000664.1:g.44126413A>T	GRCh37
NC_000002.10:g.43979917A>T	NCBI36
NG_008247.1:g.101732T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.201T>A
ENST00000472420.6:n.849T>A
ENST00000483489.2:n.201T>A
ENST00000681993.1:n.1322T>A
ENST00000682303.1:c.*3556T>A	ENSP00000508325.1:n.*3556T>A
ENST00000682308.1:c.3770T>A	ENSP00000507056.1:p.Phe1257Tyr
ENST00000682434.1:n.1321T>A
ENST00000682480.1:c.3788T>A	ENSP00000508344.1:p.Phe1263Tyr
ENST00000682546.1:c.3767T>A	ENSP00000508188.1:p.Phe1256Tyr
ENST00000682585.1:c.3770T>A	ENSP00000506885.1:p.Phe1257Tyr
ENST00000682595.1:n.4354T>A
ENST00000682607.1:c.2188T>A
ENST00000682612.1:c.622T>A
ENST00000682779.1:c.3761T>A	ENSP00000507947.1:p.Phe1254Tyr
ENST00000682845.1:n.2872T>A
ENST00000682885.1:c.3725T>A	ENSP00000508036.1:p.Phe1242Tyr
ENST00000682933.1:n.3844T>A
ENST00000683002.1:c.622T>A
ENST00000683072.1:n.4354T>A
ENST00000683080.1:n.1389T>A
ENST00000683125.1:c.3878T>A	ENSP00000507939.1:p.Phe1293Tyr
ENST00000683213.1:c.3773T>A	ENSP00000507751.1:p.Phe1258Tyr
ENST00000683220.1:c.3800T>A	ENSP00000507151.1:p.Phe1267Tyr
ENST00000683329.1:n.4573T>A
ENST00000683346.1:c.*3645T>A	ENSP00000507458.1:n.*3645T>A
ENST00000683409.1:n.2377T>A
ENST00000683459.1:n.4357T>A
ENST00000683528.1:c.698T>A
ENST00000683590.1:c.3518T>A	ENSP00000506820.1:p.Phe1173Tyr
ENST00000683623.1:c.3677T>A	ENSP00000507702.1:p.Phe1226Tyr
ENST00000683645.1:n.4321T>A
ENST00000683796.1:c.*3642T>A	ENSP00000508221.1:n.*3642T>A
ENST00000683802.1:n.6695T>A
ENST00000683833.1:c.3761T>A	ENSP00000506852.1:p.Phe1254Tyr
ENST00000683994.1:c.3770T>A	ENSP00000507181.1:p.Phe1257Tyr
ENST00000684290.1:c.*1306T>A	ENSP00000507243.1:n.*1306T>A
ENST00000684306.1:c.*3683T>A	ENSP00000508384.1:n.*3683T>A
ENST00000684341.1:n.3790T>A
ENST00000684383.1:c.*3408T>A	ENSP00000506863.1:n.*3408T>A
ENST00000684418.1:n.4951T>A
ENST00000684433.1:n.154T>A
ENST00000684454.1:n.3120T>A
ENST00000684619.1:c.*3642T>A	ENSP00000508088.1:n.*3642T>A
ENST00000684743.1:n.6515T>A
ENST00000260665.12:c.3770T>A MANE Select	ENSP00000260665.7:p.Phe1257Tyr
ENST00000260665.11:c.3770T>A	ENSP00000260665.7:p.Phe1257Tyr
ENST00000419884.5:c.11T>A	ENSP00000414207.1:p.Phe4Tyr
ENST00000463456.5:n.2813T>A
ENST00000472420.5:n.167T>A
ENST00000483489.1:n.244T>A
NM_133259.3:c.3770T>A	NP_573566.2:p.Phe1257Tyr
XM_006711915.2:c.3692T>A	XP_006711978.1:p.Phe1231Tyr
XM_011532473.1:c.3770T>A	XP_011530775.1:p.Phe1257Tyr
XM_011532474.1:c.3770T>A	XP_011530776.1:p.Phe1257Tyr
XM_017003117.1:c.3692T>A	XP_016858606.1:p.Phe1231Tyr
XR_002958896.1:n.3812T>A
NM_133259.4:c.3770T>A MANE Select	NP_573566.2:p.Phe1257Tyr