Canonical Allele Identifier: CA346676542

Gene: LRPPRC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000419884.6:c.201T>G
ENST00000472420.6:n.849T>G
ENST00000483489.2:n.201T>G
ENST00000681993.1:n.1322T>G
ENST00000682303.1:c.*3556T>G	ENSP00000508325.1:n.*3556T>G
ENST00000682308.1:c.3770T>G	ENSP00000507056.1:p.Phe1257Cys
ENST00000682434.1:n.1321T>G
ENST00000682480.1:c.3788T>G	ENSP00000508344.1:p.Phe1263Cys
ENST00000682546.1:c.3767T>G	ENSP00000508188.1:p.Phe1256Cys
ENST00000682585.1:c.3770T>G	ENSP00000506885.1:p.Phe1257Cys
ENST00000682595.1:n.4354T>G
ENST00000682607.1:c.2188T>G
ENST00000682612.1:c.622T>G
ENST00000682779.1:c.3761T>G	ENSP00000507947.1:p.Phe1254Cys
ENST00000682845.1:n.2872T>G
ENST00000682885.1:c.3725T>G	ENSP00000508036.1:p.Phe1242Cys
ENST00000682933.1:n.3844T>G
ENST00000683002.1:c.622T>G
ENST00000683072.1:n.4354T>G
ENST00000683080.1:n.1389T>G
ENST00000683125.1:c.3878T>G	ENSP00000507939.1:p.Phe1293Cys
ENST00000683213.1:c.3773T>G	ENSP00000507751.1:p.Phe1258Cys
ENST00000683220.1:c.3800T>G	ENSP00000507151.1:p.Phe1267Cys
ENST00000683329.1:n.4573T>G
ENST00000683346.1:c.*3645T>G	ENSP00000507458.1:n.*3645T>G
ENST00000683409.1:n.2377T>G
ENST00000683459.1:n.4357T>G
ENST00000683528.1:c.698T>G
ENST00000683590.1:c.3518T>G	ENSP00000506820.1:p.Phe1173Cys
ENST00000683623.1:c.3677T>G	ENSP00000507702.1:p.Phe1226Cys
ENST00000683645.1:n.4321T>G
ENST00000683796.1:c.*3642T>G	ENSP00000508221.1:n.*3642T>G
ENST00000683802.1:n.6695T>G
ENST00000683833.1:c.3761T>G	ENSP00000506852.1:p.Phe1254Cys
ENST00000683994.1:c.3770T>G	ENSP00000507181.1:p.Phe1257Cys
ENST00000684290.1:c.*1306T>G	ENSP00000507243.1:n.*1306T>G
ENST00000684306.1:c.*3683T>G	ENSP00000508384.1:n.*3683T>G
ENST00000684341.1:n.3790T>G
ENST00000684383.1:c.*3408T>G	ENSP00000506863.1:n.*3408T>G
ENST00000684418.1:n.4951T>G
ENST00000684433.1:n.154T>G
ENST00000684454.1:n.3120T>G
ENST00000684619.1:c.*3642T>G	ENSP00000508088.1:n.*3642T>G
ENST00000684743.1:n.6515T>G
ENST00000260665.12:c.3770T>G MANE Select	ENSP00000260665.7:p.Phe1257Cys
ENST00000260665.11:c.3770T>G	ENSP00000260665.7:p.Phe1257Cys
ENST00000419884.5:c.11T>G	ENSP00000414207.1:p.Phe4Cys
ENST00000463456.5:n.2813T>G
ENST00000472420.5:n.167T>G
ENST00000483489.1:n.244T>G
NM_133259.3:c.3770T>G	NP_573566.2:p.Phe1257Cys
XM_006711915.2:c.3692T>G	XP_006711978.1:p.Phe1231Cys
XM_011532473.1:c.3770T>G	XP_011530775.1:p.Phe1257Cys
XM_011532474.1:c.3770T>G	XP_011530776.1:p.Phe1257Cys
XM_017003117.1:c.3692T>G	XP_016858606.1:p.Phe1231Cys
XR_002958896.1:n.3812T>G
NM_133259.4:c.3770T>G MANE Select	NP_573566.2:p.Phe1257Cys