Canonical Allele Identifier: CA346665038

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1671046722
• gnomAD v3: 2-43905737-T-C
• gnomAD v4: 2-43905737-T-C
• MyVariant Identifiers: chr2:g.44132876T>C (hg19) ; chr2:g.43905737T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43905737T>C , CM000664.2:g.43905737T>C	GRCh38
NC_000002.11:g.44132876T>C , CM000664.1:g.44132876T>C	GRCh37
NC_000002.10:g.43986380T>C	NCBI36
NG_008247.1:g.95269A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000472420.6:n.398A>G
ENST00000681993.1:n.871A>G
ENST00000682295.1:c.474A>G	ENSP00000507499.1:n.474A>G
ENST00000682303.1:c.*3105A>G	ENSP00000508325.1:n.*3105A>G
ENST00000682308.1:c.3319A>G	ENSP00000507056.1:p.Asn1107Asp
ENST00000682480.1:c.3337A>G	ENSP00000508344.1:p.Asn1113Asp
ENST00000682546.1:c.3316A>G	ENSP00000508188.1:p.Asn1106Asp
ENST00000682585.1:c.3319A>G	ENSP00000506885.1:p.Asn1107Asp
ENST00000682595.1:n.3903A>G
ENST00000682607.1:c.1737A>G
ENST00000682612.1:c.171A>G
ENST00000682779.1:c.3310A>G	ENSP00000507947.1:p.Asn1104Asp
ENST00000682845.1:n.2421A>G
ENST00000682885.1:c.3274A>G	ENSP00000508036.1:p.Asn1092Asp
ENST00000682933.1:n.3393A>G
ENST00000683002.1:c.171A>G
ENST00000683072.1:n.3903A>G
ENST00000683080.1:n.938A>G
ENST00000683125.1:c.3427A>G	ENSP00000507939.1:p.Asn1143Asp
ENST00000683213.1:c.3322A>G	ENSP00000507751.1:p.Asn1108Asp
ENST00000683220.1:c.3349A>G	ENSP00000507151.1:p.Asn1117Asp
ENST00000683329.1:n.4122A>G
ENST00000683346.1:c.*3194A>G	ENSP00000507458.1:n.*3194A>G
ENST00000683409.1:n.1926A>G
ENST00000683459.1:n.3906A>G
ENST00000683528.1:c.171A>G
ENST00000683590.1:c.3067A>G	ENSP00000506820.1:p.Asn1023Asp
ENST00000683623.1:c.3226A>G	ENSP00000507702.1:p.Asn1076Asp
ENST00000683645.1:n.3870A>G
ENST00000683796.1:c.*3191A>G	ENSP00000508221.1:n.*3191A>G
ENST00000683802.1:n.6244A>G
ENST00000683833.1:c.3310A>G	ENSP00000506852.1:p.Asn1104Asp
ENST00000683994.1:c.3319A>G	ENSP00000507181.1:p.Asn1107Asp
ENST00000684290.1:c.*855A>G	ENSP00000507243.1:n.*855A>G
ENST00000684306.1:c.*3232A>G	ENSP00000508384.1:n.*3232A>G
ENST00000684341.1:n.3339A>G
ENST00000684383.1:c.*2957A>G	ENSP00000506863.1:n.*2957A>G
ENST00000684418.1:n.4500A>G
ENST00000684454.1:n.2669A>G
ENST00000684619.1:c.*3191A>G	ENSP00000508088.1:n.*3191A>G
ENST00000684743.1:n.4350A>G
ENST00000260665.12:c.3319A>G MANE Select	ENSP00000260665.7:p.Asn1107Asp
ENST00000260665.11:c.3319A>G	ENSP00000260665.7:p.Asn1107Asp
NM_133259.3:c.3319A>G	NP_573566.2:p.Asn1107Asp
XM_006711915.2:c.3241A>G	XP_006711978.1:p.Asn1081Asp
XM_011532473.1:c.3319A>G	XP_011530775.1:p.Asn1107Asp
XM_011532474.1:c.3319A>G	XP_011530776.1:p.Asn1107Asp
XM_017003117.1:c.3241A>G	XP_016858606.1:p.Asn1081Asp
XR_002958896.1:n.3361A>G
NM_133259.4:c.3319A>G MANE Select	NP_573566.2:p.Asn1107Asp