Canonical Allele Identifier: CA346673368

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44171007T>C (hg19) ; chr2:g.43943868T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943868T>C , CM000664.2:g.43943868T>C	GRCh38
NC_000002.11:g.44171007T>C , CM000664.1:g.44171007T>C	GRCh37
NC_000002.10:g.44024511T>C	NCBI36
NG_008247.1:g.57138A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.2323A>G	ENSP00000386562.2:p.Lys775Glu
ENST00000447246.2:c.2323A>G	ENSP00000403637.2:p.Lys775Glu
ENST00000681961.1:n.2343A>G
ENST00000682104.1:c.2197A>G	ENSP00000507716.1:p.Lys733Glu
ENST00000682303.1:c.*2109A>G	ENSP00000508325.1:n.*2109A>G
ENST00000682308.1:c.2323A>G	ENSP00000507056.1:p.Lys775Glu
ENST00000682480.1:c.2323A>G	ENSP00000508344.1:p.Lys775Glu
ENST00000682546.1:c.2320A>G	ENSP00000508188.1:p.Lys774Glu
ENST00000682585.1:c.2323A>G	ENSP00000506885.1:p.Lys775Glu
ENST00000682595.1:n.2905A>G
ENST00000682607.1:c.741A>G
ENST00000682779.1:c.2314A>G	ENSP00000507947.1:p.Lys772Glu
ENST00000682845.1:n.1425A>G
ENST00000682885.1:c.2278A>G	ENSP00000508036.1:p.Lys760Glu
ENST00000682933.1:n.2397A>G
ENST00000683072.1:n.2905A>G
ENST00000683125.1:c.2323A>G	ENSP00000507939.1:p.Lys775Glu
ENST00000683213.1:c.2326A>G	ENSP00000507751.1:p.Lys776Glu
ENST00000683220.1:c.2353A>G	ENSP00000507151.1:p.Lys785Glu
ENST00000683329.1:n.3126A>G
ENST00000683346.1:c.*2198A>G	ENSP00000507458.1:n.*2198A>G
ENST00000683459.1:n.2910A>G
ENST00000683590.1:c.2323A>G	ENSP00000506820.1:p.Lys775Glu
ENST00000683623.1:c.2297-67A>G	ENSP00000507702.1:n.2297-67A>G
ENST00000683645.1:n.2874A>G
ENST00000683694.1:n.1074A>G
ENST00000683796.1:c.*2195A>G	ENSP00000508221.1:n.*2195A>G
ENST00000683802.1:n.5248A>G
ENST00000683833.1:c.2314A>G	ENSP00000506852.1:p.Lys772Glu
ENST00000683989.1:c.2323A>G	ENSP00000507510.1:p.Lys775Glu
ENST00000683994.1:c.2323A>G	ENSP00000507181.1:p.Lys775Glu
ENST00000684290.1:c.*17A>G	ENSP00000507243.1:n.*17A>G
ENST00000684306.1:c.*2236A>G	ENSP00000508384.1:n.*2236A>G
ENST00000684341.1:n.2343A>G
ENST00000684383.1:c.*1961A>G	ENSP00000506863.1:n.*1961A>G
ENST00000684397.1:c.27A>G
ENST00000684619.1:c.*2195A>G	ENSP00000508088.1:n.*2195A>G
ENST00000684743.1:n.3354A>G
ENST00000260665.12:c.2323A>G MANE Select	ENSP00000260665.7:p.Lys775Glu
ENST00000260665.11:c.2323A>G	ENSP00000260665.7:p.Lys775Glu
NM_133259.3:c.2323A>G	NP_573566.2:p.Lys775Glu
XM_006711915.2:c.2245A>G	XP_006711978.1:p.Lys749Glu
XM_006711916.2:c.2323A>G	XP_006711979.1:p.Lys775Glu
XM_011532473.1:c.2323A>G	XP_011530775.1:p.Lys775Glu
XM_011532474.1:c.2323A>G	XP_011530776.1:p.Lys775Glu
XM_006711916.3:c.2323A>G	XP_006711979.1:p.Lys775Glu
XM_017003117.1:c.2245A>G	XP_016858606.1:p.Lys749Glu
XR_002958896.1:n.2365A>G
NM_133259.4:c.2323A>G MANE Select	NP_573566.2:p.Lys775Glu