Canonical Allele Identifier: CA46441850

Gene: LRPPRC

Linked Data

• dbSNP Id: rs908946453
• MyVariant Identifiers: chr2:g.44145402A>G (hg19) ; chr2:g.43918263A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918263A>G , CM000664.2:g.43918263A>G	GRCh38
NC_000002.11:g.44145402A>G , CM000664.1:g.44145402A>G	GRCh37
NC_000002.10:g.43998906A>G	NCBI36
NG_008247.1:g.82743T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.584T>C
ENST00000682295.1:c.296T>C	ENSP00000507499.1:p.Val99Ala
ENST00000682303.1:c.*2818T>C	ENSP00000508325.1:n.*2818T>C
ENST00000682308.1:c.3032T>C	ENSP00000507056.1:p.Val1011Ala
ENST00000682480.1:c.3032T>C	ENSP00000508344.1:p.Val1011Ala
ENST00000682546.1:c.3029T>C	ENSP00000508188.1:p.Val1010Ala
ENST00000682585.1:c.3032T>C	ENSP00000506885.1:p.Val1011Ala
ENST00000682595.1:n.3616T>C
ENST00000682607.1:c.1450T>C
ENST00000682779.1:c.3023T>C	ENSP00000507947.1:p.Val1008Ala
ENST00000682845.1:n.2134T>C
ENST00000682885.1:c.2987T>C	ENSP00000508036.1:p.Val996Ala
ENST00000682933.1:n.3106T>C
ENST00000683072.1:n.3616T>C
ENST00000683080.1:n.651T>C
ENST00000683125.1:c.3140T>C	ENSP00000507939.1:p.Val1047Ala
ENST00000683213.1:c.3035T>C	ENSP00000507751.1:p.Val1012Ala
ENST00000683220.1:c.3062T>C	ENSP00000507151.1:p.Val1021Ala
ENST00000683236.1:c.362T>C	ENSP00000506891.1:n.362T>C
ENST00000683329.1:n.3835T>C
ENST00000683346.1:c.*2907T>C	ENSP00000507458.1:n.*2907T>C
ENST00000683409.1:n.1639T>C
ENST00000683459.1:n.3619T>C
ENST00000683590.1:c.2897-5705T>C	ENSP00000506820.1:n.2897-5705T>C
ENST00000683623.1:c.2939T>C	ENSP00000507702.1:p.Val980Ala
ENST00000683645.1:n.3583T>C
ENST00000683796.1:c.*2904T>C	ENSP00000508221.1:n.*2904T>C
ENST00000683802.1:n.5957T>C
ENST00000683833.1:c.3023T>C	ENSP00000506852.1:p.Val1008Ala
ENST00000683994.1:c.3032T>C	ENSP00000507181.1:p.Val1011Ala
ENST00000684290.1:c.*568T>C	ENSP00000507243.1:n.*568T>C
ENST00000684306.1:c.*2945T>C	ENSP00000508384.1:n.*2945T>C
ENST00000684341.1:n.3052T>C
ENST00000684383.1:c.*2670T>C	ENSP00000506863.1:n.*2670T>C
ENST00000684619.1:c.*2904T>C	ENSP00000508088.1:n.*2904T>C
ENST00000684705.1:n.153T>C
ENST00000684743.1:n.4063T>C
ENST00000260665.12:c.3032T>C MANE Select	ENSP00000260665.7:p.Val1011Ala
ENST00000260665.11:c.3032T>C	ENSP00000260665.7:p.Val1011Ala
NM_133259.3:c.3032T>C	NP_573566.2:p.Val1011Ala
XM_006711915.2:c.2954T>C	XP_006711978.1:p.Val985Ala
XM_006711916.2:c.3032T>C	XP_006711979.1:p.Val1011Ala
XM_011532473.1:c.3032T>C	XP_011530775.1:p.Val1011Ala
XM_011532474.1:c.3032T>C	XP_011530776.1:p.Val1011Ala
XM_006711916.3:c.3032T>C	XP_006711979.1:p.Val1011Ala
XM_017003117.1:c.2954T>C	XP_016858606.1:p.Val985Ala
XR_002958896.1:n.3074T>C
NM_133259.4:c.3032T>C MANE Select	NP_573566.2:p.Val1011Ala