Canonical Allele Identifier: CA346668534

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1490848720
• gnomAD v2: 2-44145463-T-C
• gnomAD v4: 2-43918324-T-C
• MyVariant Identifiers: chr2:g.44145463T>C (hg19) ; chr2:g.43918324T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918324T>C , CM000664.2:g.43918324T>C	GRCh38
NC_000002.11:g.44145463T>C , CM000664.1:g.44145463T>C	GRCh37
NC_000002.10:g.43998967T>C	NCBI36
NG_008247.1:g.82682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.523A>G
ENST00000682295.1:c.235A>G	ENSP00000507499.1:p.Lys79Glu
ENST00000682303.1:c.*2757A>G	ENSP00000508325.1:n.*2757A>G
ENST00000682308.1:c.2971A>G	ENSP00000507056.1:p.Lys991Glu
ENST00000682480.1:c.2971A>G	ENSP00000508344.1:p.Lys991Glu
ENST00000682546.1:c.2968A>G	ENSP00000508188.1:p.Lys990Glu
ENST00000682585.1:c.2971A>G	ENSP00000506885.1:p.Lys991Glu
ENST00000682595.1:n.3555A>G
ENST00000682607.1:c.1389A>G
ENST00000682779.1:c.2962A>G	ENSP00000507947.1:p.Lys988Glu
ENST00000682845.1:n.2073A>G
ENST00000682885.1:c.2926A>G	ENSP00000508036.1:p.Lys976Glu
ENST00000682933.1:n.3045A>G
ENST00000683072.1:n.3555A>G
ENST00000683080.1:n.590A>G
ENST00000683125.1:c.3079A>G	ENSP00000507939.1:p.Lys1027Glu
ENST00000683213.1:c.2974A>G	ENSP00000507751.1:p.Lys992Glu
ENST00000683220.1:c.3001A>G	ENSP00000507151.1:p.Lys1001Glu
ENST00000683236.1:c.301A>G	ENSP00000506891.1:n.301A>G
ENST00000683329.1:n.3774A>G
ENST00000683346.1:c.*2846A>G	ENSP00000507458.1:n.*2846A>G
ENST00000683409.1:n.1578A>G
ENST00000683459.1:n.3558A>G
ENST00000683590.1:c.2897-5766A>G	ENSP00000506820.1:n.2897-5766A>G
ENST00000683623.1:c.2878A>G	ENSP00000507702.1:p.Lys960Glu
ENST00000683645.1:n.3522A>G
ENST00000683796.1:c.*2843A>G	ENSP00000508221.1:n.*2843A>G
ENST00000683802.1:n.5896A>G
ENST00000683833.1:c.2962A>G	ENSP00000506852.1:p.Lys988Glu
ENST00000683994.1:c.2971A>G	ENSP00000507181.1:p.Lys991Glu
ENST00000684290.1:c.*507A>G	ENSP00000507243.1:n.*507A>G
ENST00000684306.1:c.*2884A>G	ENSP00000508384.1:n.*2884A>G
ENST00000684341.1:n.2991A>G
ENST00000684383.1:c.*2609A>G	ENSP00000506863.1:n.*2609A>G
ENST00000684619.1:c.*2843A>G	ENSP00000508088.1:n.*2843A>G
ENST00000684705.1:n.92A>G
ENST00000684743.1:n.4002A>G
ENST00000260665.12:c.2971A>G MANE Select	ENSP00000260665.7:p.Lys991Glu
ENST00000260665.11:c.2971A>G	ENSP00000260665.7:p.Lys991Glu
NM_133259.3:c.2971A>G	NP_573566.2:p.Lys991Glu
XM_006711915.2:c.2893A>G	XP_006711978.1:p.Lys965Glu
XM_006711916.2:c.2971A>G	XP_006711979.1:p.Lys991Glu
XM_011532473.1:c.2971A>G	XP_011530775.1:p.Lys991Glu
XM_011532474.1:c.2971A>G	XP_011530776.1:p.Lys991Glu
XM_006711916.3:c.2971A>G	XP_006711979.1:p.Lys991Glu
XM_017003117.1:c.2893A>G	XP_016858606.1:p.Lys965Glu
XR_002958896.1:n.3013A>G
NM_133259.4:c.2971A>G MANE Select	NP_573566.2:p.Lys991Glu