Canonical Allele Identifier: CA1638473

Gene: LRPPRC

Linked Data

• dbSNP Id: rs758670949
• ExAC: 2:44170914 T / C
• gnomAD v2: 2-44170914-T-C
• gnomAD v4: 2-43943775-T-C
• MyVariant Identifiers: chr2:g.44170914T>C (hg19) ; chr2:g.43943775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943775T>C , CM000664.2:g.43943775T>C	GRCh38
NC_000002.11:g.44170914T>C , CM000664.1:g.44170914T>C	GRCh37
NC_000002.10:g.44024418T>C	NCBI36
NG_008247.1:g.57231A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2416A>G	ENSP00000386562.2:p.Lys806Glu
ENST00000447246.2:c.2416A>G	ENSP00000403637.2:p.Lys806Glu
ENST00000681961.1:n.2436A>G
ENST00000682104.1:c.2290A>G	ENSP00000507716.1:p.Lys764Glu
ENST00000682303.1:c.*2202A>G	ENSP00000508325.1:n.*2202A>G
ENST00000682308.1:c.2416A>G	ENSP00000507056.1:p.Lys806Glu
ENST00000682480.1:c.2416A>G	ENSP00000508344.1:p.Lys806Glu
ENST00000682546.1:c.2413A>G	ENSP00000508188.1:p.Lys805Glu
ENST00000682585.1:c.2416A>G	ENSP00000506885.1:p.Lys806Glu
ENST00000682595.1:n.2998A>G
ENST00000682607.1:c.834A>G
ENST00000682779.1:c.2407A>G	ENSP00000507947.1:p.Lys803Glu
ENST00000682845.1:n.1518A>G
ENST00000682885.1:c.2371A>G	ENSP00000508036.1:p.Lys791Glu
ENST00000682933.1:n.2490A>G
ENST00000683072.1:n.2998A>G
ENST00000683125.1:c.2416A>G	ENSP00000507939.1:p.Lys806Glu
ENST00000683213.1:c.2419A>G	ENSP00000507751.1:p.Lys807Glu
ENST00000683220.1:c.2446A>G	ENSP00000507151.1:p.Lys816Glu
ENST00000683329.1:n.3219A>G
ENST00000683346.1:c.*2291A>G	ENSP00000507458.1:n.*2291A>G
ENST00000683459.1:n.3003A>G
ENST00000683590.1:c.2416A>G	ENSP00000506820.1:p.Lys806Glu
ENST00000683623.1:c.2323A>G	ENSP00000507702.1:p.Lys775Glu
ENST00000683645.1:n.2967A>G
ENST00000683694.1:n.1167A>G
ENST00000683796.1:c.*2288A>G	ENSP00000508221.1:n.*2288A>G
ENST00000683802.1:n.5341A>G
ENST00000683833.1:c.2407A>G	ENSP00000506852.1:p.Lys803Glu
ENST00000683989.1:c.2416A>G	ENSP00000507510.1:p.Lys806Glu
ENST00000683994.1:c.2416A>G	ENSP00000507181.1:p.Lys806Glu
ENST00000684290.1:c.*110A>G	ENSP00000507243.1:n.*110A>G
ENST00000684306.1:c.*2329A>G	ENSP00000508384.1:n.*2329A>G
ENST00000684341.1:n.2436A>G
ENST00000684383.1:c.*2054A>G	ENSP00000506863.1:n.*2054A>G
ENST00000684397.1:c.120A>G
ENST00000684619.1:c.*2288A>G	ENSP00000508088.1:n.*2288A>G
ENST00000684743.1:n.3447A>G
ENST00000260665.12:c.2416A>G MANE Select	ENSP00000260665.7:p.Lys806Glu
ENST00000260665.11:c.2416A>G	ENSP00000260665.7:p.Lys806Glu
NM_133259.3:c.2416A>G	NP_573566.2:p.Lys806Glu
XM_006711915.2:c.2338A>G	XP_006711978.1:p.Lys780Glu
XM_006711916.2:c.2416A>G	XP_006711979.1:p.Lys806Glu
XM_011532473.1:c.2416A>G	XP_011530775.1:p.Lys806Glu
XM_011532474.1:c.2416A>G	XP_011530776.1:p.Lys806Glu
XM_006711916.3:c.2416A>G	XP_006711979.1:p.Lys806Glu
XM_017003117.1:c.2338A>G	XP_016858606.1:p.Lys780Glu
XR_002958896.1:n.2458A>G
NM_133259.4:c.2416A>G MANE Select	NP_573566.2:p.Lys806Glu