Canonical Allele Identifier: CA346667890

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145172T>C (hg19) ; chr2:g.43918033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918033T>C , CM000664.2:g.43918033T>C	GRCh38
NC_000002.11:g.44145172T>C , CM000664.1:g.44145172T>C	GRCh37
NC_000002.10:g.43998676T>C	NCBI36
NG_008247.1:g.82973A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000681993.1:n.692A>G
ENST00000682295.1:c.303+223A>G	ENSP00000507499.1:n.303+223A>G
ENST00000682303.1:c.*2926A>G	ENSP00000508325.1:n.*2926A>G
ENST00000682308.1:c.3140A>G	ENSP00000507056.1:p.Gln1047Arg
ENST00000682480.1:c.3158A>G	ENSP00000508344.1:p.Gln1053Arg
ENST00000682546.1:c.3137A>G	ENSP00000508188.1:p.Gln1046Arg
ENST00000682585.1:c.3140A>G	ENSP00000506885.1:p.Gln1047Arg
ENST00000682595.1:n.3724A>G
ENST00000682607.1:c.1558A>G
ENST00000682779.1:c.3131A>G	ENSP00000507947.1:p.Gln1044Arg
ENST00000682845.1:n.2242A>G
ENST00000682885.1:c.3095A>G	ENSP00000508036.1:p.Gln1032Arg
ENST00000682933.1:n.3214A>G
ENST00000683072.1:n.3724A>G
ENST00000683080.1:n.759A>G
ENST00000683125.1:c.3248A>G	ENSP00000507939.1:p.Gln1083Arg
ENST00000683213.1:c.3143A>G	ENSP00000507751.1:p.Gln1048Arg
ENST00000683220.1:c.3170A>G	ENSP00000507151.1:p.Gln1057Arg
ENST00000683329.1:n.3943A>G
ENST00000683346.1:c.*3015A>G	ENSP00000507458.1:n.*3015A>G
ENST00000683409.1:n.1747A>G
ENST00000683459.1:n.3727A>G
ENST00000683590.1:c.2897-5475A>G	ENSP00000506820.1:n.2897-5475A>G
ENST00000683623.1:c.3047A>G	ENSP00000507702.1:p.Gln1016Arg
ENST00000683645.1:n.3691A>G
ENST00000683796.1:c.*3012A>G	ENSP00000508221.1:n.*3012A>G
ENST00000683802.1:n.6065A>G
ENST00000683833.1:c.3131A>G	ENSP00000506852.1:p.Gln1044Arg
ENST00000683994.1:c.3140A>G	ENSP00000507181.1:p.Gln1047Arg
ENST00000684290.1:c.*676A>G	ENSP00000507243.1:n.*676A>G
ENST00000684306.1:c.*3053A>G	ENSP00000508384.1:n.*3053A>G
ENST00000684341.1:n.3160A>G
ENST00000684383.1:c.*2778A>G	ENSP00000506863.1:n.*2778A>G
ENST00000684619.1:c.*3012A>G	ENSP00000508088.1:n.*3012A>G
ENST00000684705.1:n.261A>G
ENST00000684743.1:n.4171A>G
ENST00000260665.12:c.3140A>G MANE Select	ENSP00000260665.7:p.Gln1047Arg
ENST00000260665.11:c.3140A>G	ENSP00000260665.7:p.Gln1047Arg
NM_133259.3:c.3140A>G	NP_573566.2:p.Gln1047Arg
XM_006711915.2:c.3062A>G	XP_006711978.1:p.Gln1021Arg
XM_006711916.2:c.3140A>G	XP_006711979.1:p.Gln1047Arg
XM_011532473.1:c.3140A>G	XP_011530775.1:p.Gln1047Arg
XM_011532474.1:c.3140A>G	XP_011530776.1:p.Gln1047Arg
XM_006711916.3:c.3140A>G	XP_006711979.1:p.Gln1047Arg
XM_017003117.1:c.3062A>G	XP_016858606.1:p.Gln1021Arg
XR_002958896.1:n.3182A>G
NM_133259.4:c.3140A>G MANE Select	NP_573566.2:p.Gln1047Arg