Canonical Allele Identifier: CA346676242

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 1331340
• ClinVar RCV Id: RCV001806685 ; RCV003264103
• dbSNP Id: rs1229301675
• gnomAD v3: 2-43948196-C-T
• gnomAD v4: 2-43948196-C-T
• MyVariant Identifiers: chr2:g.44175335C>T (hg19) ; chr2:g.43948196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948196C>T , CM000664.2:g.43948196C>T	GRCh38
NC_000002.11:g.44175335C>T , CM000664.1:g.44175335C>T	GRCh37
NC_000002.10:g.44028839C>T	NCBI36
NG_008247.1:g.52810G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1846G>A	ENSP00000386562.2:p.Val616Ile
ENST00000447246.2:c.1846G>A	ENSP00000403637.2:p.Val616Ile
ENST00000467058.2:n.575G>A
ENST00000681959.1:n.1460G>A
ENST00000681961.1:n.1866G>A
ENST00000682104.1:c.1720G>A	ENSP00000507716.1:p.Val574Ile
ENST00000682303.1:c.*1718G>A	ENSP00000508325.1:n.*1718G>A
ENST00000682308.1:c.1846G>A	ENSP00000507056.1:p.Val616Ile
ENST00000682480.1:c.1846G>A	ENSP00000508344.1:p.Val616Ile
ENST00000682546.1:c.1843G>A	ENSP00000508188.1:p.Val615Ile
ENST00000682585.1:c.1846G>A	ENSP00000506885.1:p.Val616Ile
ENST00000682595.1:n.2428G>A
ENST00000682607.1:c.264G>A
ENST00000682779.1:c.1837G>A	ENSP00000507947.1:p.Val613Ile
ENST00000682885.1:c.1846G>A	ENSP00000508036.1:p.Val616Ile
ENST00000682933.1:n.1920G>A
ENST00000683072.1:n.2428G>A
ENST00000683082.1:n.1864G>A
ENST00000683125.1:c.1846G>A	ENSP00000507939.1:p.Val616Ile
ENST00000683213.1:c.1849G>A	ENSP00000507751.1:p.Val617Ile
ENST00000683220.1:c.1876G>A	ENSP00000507151.1:p.Val626Ile
ENST00000683329.1:n.2649G>A
ENST00000683346.1:c.*1721G>A	ENSP00000507458.1:n.*1721G>A
ENST00000683459.1:n.2433G>A
ENST00000683590.1:c.1846G>A	ENSP00000506820.1:p.Val616Ile
ENST00000683623.1:c.1846G>A	ENSP00000507702.1:p.Val616Ile
ENST00000683645.1:n.2397G>A
ENST00000683694.1:n.597G>A
ENST00000683796.1:c.*1718G>A	ENSP00000508221.1:n.*1718G>A
ENST00000683802.1:n.4771G>A
ENST00000683833.1:c.1837G>A	ENSP00000506852.1:p.Val613Ile
ENST00000683934.1:c.1732G>A
ENST00000683989.1:c.1846G>A	ENSP00000507510.1:p.Val616Ile
ENST00000683994.1:c.1846G>A	ENSP00000507181.1:p.Val616Ile
ENST00000684290.1:c.1846G>A	ENSP00000507243.1:p.Val616Ile
ENST00000684306.1:c.*1759G>A	ENSP00000508384.1:n.*1759G>A
ENST00000684341.1:n.1866G>A
ENST00000684383.1:c.*1484G>A	ENSP00000506863.1:n.*1484G>A
ENST00000684482.1:c.4315G>A
ENST00000684619.1:c.*1718G>A	ENSP00000508088.1:n.*1718G>A
ENST00000684743.1:n.2877G>A
ENST00000260665.12:c.1846G>A MANE Select	ENSP00000260665.7:p.Val616Ile
ENST00000260665.11:c.1846G>A	ENSP00000260665.7:p.Val616Ile
NM_133259.3:c.1846G>A	NP_573566.2:p.Val616Ile
XM_006711915.2:c.1768G>A	XP_006711978.1:p.Val590Ile
XM_006711916.2:c.1846G>A	XP_006711979.1:p.Val616Ile
XM_011532473.1:c.1846G>A	XP_011530775.1:p.Val616Ile
XM_011532474.1:c.1846G>A	XP_011530776.1:p.Val616Ile
XM_006711916.3:c.1846G>A	XP_006711979.1:p.Val616Ile
XM_017003117.1:c.1768G>A	XP_016858606.1:p.Val590Ile
XR_002958896.1:n.1888G>A
NM_133259.4:c.1846G>A MANE Select	NP_573566.2:p.Val616Ile