Canonical Allele Identifier: CA346672767

Gene: LRPPRC

Linked Data

• gnomAD v4: 2-43943774-T-C
• MyVariant Identifiers: chr2:g.44170913T>C (hg19) ; chr2:g.43943774T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43943774T>C , CM000664.2:g.43943774T>C	GRCh38
NC_000002.11:g.44170913T>C , CM000664.1:g.44170913T>C	GRCh37
NC_000002.10:g.44024417T>C	NCBI36
NG_008247.1:g.57232A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000409659.6:c.2417A>G	ENSP00000386562.2:p.Lys806Arg
ENST00000447246.2:c.2417A>G	ENSP00000403637.2:p.Lys806Arg
ENST00000681961.1:n.2437A>G
ENST00000682104.1:c.2291A>G	ENSP00000507716.1:p.Lys764Arg
ENST00000682303.1:c.*2203A>G	ENSP00000508325.1:n.*2203A>G
ENST00000682308.1:c.2417A>G	ENSP00000507056.1:p.Lys806Arg
ENST00000682480.1:c.2417A>G	ENSP00000508344.1:p.Lys806Arg
ENST00000682546.1:c.2414A>G	ENSP00000508188.1:p.Lys805Arg
ENST00000682585.1:c.2417A>G	ENSP00000506885.1:p.Lys806Arg
ENST00000682595.1:n.2999A>G
ENST00000682607.1:c.835A>G
ENST00000682779.1:c.2408A>G	ENSP00000507947.1:p.Lys803Arg
ENST00000682845.1:n.1519A>G
ENST00000682885.1:c.2372A>G	ENSP00000508036.1:p.Lys791Arg
ENST00000682933.1:n.2491A>G
ENST00000683072.1:n.2999A>G
ENST00000683125.1:c.2417A>G	ENSP00000507939.1:p.Lys806Arg
ENST00000683213.1:c.2420A>G	ENSP00000507751.1:p.Lys807Arg
ENST00000683220.1:c.2447A>G	ENSP00000507151.1:p.Lys816Arg
ENST00000683329.1:n.3220A>G
ENST00000683346.1:c.*2292A>G	ENSP00000507458.1:n.*2292A>G
ENST00000683459.1:n.3004A>G
ENST00000683590.1:c.2417A>G	ENSP00000506820.1:p.Lys806Arg
ENST00000683623.1:c.2324A>G	ENSP00000507702.1:p.Lys775Arg
ENST00000683645.1:n.2968A>G
ENST00000683694.1:n.1168A>G
ENST00000683796.1:c.*2289A>G	ENSP00000508221.1:n.*2289A>G
ENST00000683802.1:n.5342A>G
ENST00000683833.1:c.2408A>G	ENSP00000506852.1:p.Lys803Arg
ENST00000683989.1:c.2417A>G	ENSP00000507510.1:p.Lys806Arg
ENST00000683994.1:c.2417A>G	ENSP00000507181.1:p.Lys806Arg
ENST00000684290.1:c.*111A>G	ENSP00000507243.1:n.*111A>G
ENST00000684306.1:c.*2330A>G	ENSP00000508384.1:n.*2330A>G
ENST00000684341.1:n.2437A>G
ENST00000684383.1:c.*2055A>G	ENSP00000506863.1:n.*2055A>G
ENST00000684397.1:c.121A>G
ENST00000684619.1:c.*2289A>G	ENSP00000508088.1:n.*2289A>G
ENST00000684743.1:n.3448A>G
ENST00000260665.12:c.2417A>G MANE Select	ENSP00000260665.7:p.Lys806Arg
ENST00000260665.11:c.2417A>G	ENSP00000260665.7:p.Lys806Arg
NM_133259.3:c.2417A>G	NP_573566.2:p.Lys806Arg
XM_006711915.2:c.2339A>G	XP_006711978.1:p.Lys780Arg
XM_006711916.2:c.2417A>G	XP_006711979.1:p.Lys806Arg
XM_011532473.1:c.2417A>G	XP_011530775.1:p.Lys806Arg
XM_011532474.1:c.2417A>G	XP_011530776.1:p.Lys806Arg
XM_006711916.3:c.2417A>G	XP_006711979.1:p.Lys806Arg
XM_017003117.1:c.2339A>G	XP_016858606.1:p.Lys780Arg
XR_002958896.1:n.2459A>G
NM_133259.4:c.2417A>G MANE Select	NP_573566.2:p.Lys806Arg