Canonical Allele Identifier: CA346676136

Gene: LRPPRC

Linked Data

• dbSNP Id: rs1197199988
• gnomAD v3: 2-43948171-C-T
• gnomAD v4: 2-43948171-C-T
• COSMIC: COSM5978344
• MyVariant Identifiers: chr2:g.44175310C>T (hg19) ; chr2:g.43948171C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948171C>T , CM000664.2:g.43948171C>T	GRCh38
NC_000002.11:g.44175310C>T , CM000664.1:g.44175310C>T	GRCh37
NC_000002.10:g.44028814C>T	NCBI36
NG_008247.1:g.52835G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1871G>A	ENSP00000386562.2:p.Arg624Lys
ENST00000447246.2:c.1871G>A	ENSP00000403637.2:p.Arg624Lys
ENST00000467058.2:n.600G>A
ENST00000681959.1:n.1485G>A
ENST00000681961.1:n.1891G>A
ENST00000682104.1:c.1745G>A	ENSP00000507716.1:p.Arg582Lys
ENST00000682303.1:c.*1743G>A	ENSP00000508325.1:n.*1743G>A
ENST00000682308.1:c.1871G>A	ENSP00000507056.1:p.Arg624Lys
ENST00000682480.1:c.1871G>A	ENSP00000508344.1:p.Arg624Lys
ENST00000682546.1:c.1868G>A	ENSP00000508188.1:p.Arg623Lys
ENST00000682585.1:c.1871G>A	ENSP00000506885.1:p.Arg624Lys
ENST00000682595.1:n.2453G>A
ENST00000682607.1:c.289G>A
ENST00000682779.1:c.1862G>A	ENSP00000507947.1:p.Arg621Lys
ENST00000682885.1:c.1871G>A	ENSP00000508036.1:p.Arg624Lys
ENST00000682933.1:n.1945G>A
ENST00000683072.1:n.2453G>A
ENST00000683082.1:n.1889G>A
ENST00000683125.1:c.1871G>A	ENSP00000507939.1:p.Arg624Lys
ENST00000683213.1:c.1874G>A	ENSP00000507751.1:p.Arg625Lys
ENST00000683220.1:c.1901G>A	ENSP00000507151.1:p.Arg634Lys
ENST00000683329.1:n.2674G>A
ENST00000683346.1:c.*1746G>A	ENSP00000507458.1:n.*1746G>A
ENST00000683459.1:n.2458G>A
ENST00000683590.1:c.1871G>A	ENSP00000506820.1:p.Arg624Lys
ENST00000683623.1:c.1871G>A	ENSP00000507702.1:p.Arg624Lys
ENST00000683645.1:n.2422G>A
ENST00000683694.1:n.622G>A
ENST00000683796.1:c.*1743G>A	ENSP00000508221.1:n.*1743G>A
ENST00000683802.1:n.4796G>A
ENST00000683833.1:c.1862G>A	ENSP00000506852.1:p.Arg621Lys
ENST00000683934.1:c.1757G>A
ENST00000683989.1:c.1871G>A	ENSP00000507510.1:p.Arg624Lys
ENST00000683994.1:c.1871G>A	ENSP00000507181.1:p.Arg624Lys
ENST00000684290.1:c.1871G>A	ENSP00000507243.1:p.Arg624Lys
ENST00000684306.1:c.*1784G>A	ENSP00000508384.1:n.*1784G>A
ENST00000684341.1:n.1891G>A
ENST00000684383.1:c.*1509G>A	ENSP00000506863.1:n.*1509G>A
ENST00000684482.1:c.4340G>A
ENST00000684619.1:c.*1743G>A	ENSP00000508088.1:n.*1743G>A
ENST00000684743.1:n.2902G>A
ENST00000260665.12:c.1871G>A MANE Select	ENSP00000260665.7:p.Arg624Lys
ENST00000260665.11:c.1871G>A	ENSP00000260665.7:p.Arg624Lys
NM_133259.3:c.1871G>A	NP_573566.2:p.Arg624Lys
XM_006711915.2:c.1793G>A	XP_006711978.1:p.Arg598Lys
XM_006711916.2:c.1871G>A	XP_006711979.1:p.Arg624Lys
XM_011532473.1:c.1871G>A	XP_011530775.1:p.Arg624Lys
XM_011532474.1:c.1871G>A	XP_011530776.1:p.Arg624Lys
XM_006711916.3:c.1871G>A	XP_006711979.1:p.Arg624Lys
XM_017003117.1:c.1793G>A	XP_016858606.1:p.Arg598Lys
XR_002958896.1:n.1913G>A
NM_133259.4:c.1871G>A MANE Select	NP_573566.2:p.Arg624Lys