Canonical Allele Identifier: CA2658840973

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 2771842
• ClinVar RCV Id: RCV003574467
• gnomAD v4: 2-43948210-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948210G>A , CM000664.2:g.43948210G>A	GRCh38
NC_000002.11:g.44175349G>A , CM000664.1:g.44175349G>A	GRCh37
NC_000002.10:g.44028853G>A	NCBI36
NG_008247.1:g.52796C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1843-11C>T	ENSP00000386562.2:n.1843-11C>T
ENST00000447246.2:c.1843-11C>T	ENSP00000403637.2:n.1843-11C>T
ENST00000467058.2:n.572-11C>T
ENST00000681959.1:n.1457-11C>T
ENST00000681961.1:n.1863-11C>T
ENST00000682104.1:c.1717-11C>T	ENSP00000507716.1:n.1717-11C>T
ENST00000682303.1:c.*1715-11C>T	ENSP00000508325.1:n.*1715-11C>T
ENST00000682308.1:c.1843-11C>T	ENSP00000507056.1:n.1843-11C>T
ENST00000682480.1:c.1843-11C>T	ENSP00000508344.1:n.1843-11C>T
ENST00000682546.1:c.1840-11C>T	ENSP00000508188.1:n.1840-11C>T
ENST00000682585.1:c.1843-11C>T	ENSP00000506885.1:n.1843-11C>T
ENST00000682595.1:n.2425-11C>T
ENST00000682607.1:c.261-11C>T
ENST00000682779.1:c.1834-11C>T	ENSP00000507947.1:n.1834-11C>T
ENST00000682885.1:c.1843-11C>T	ENSP00000508036.1:n.1843-11C>T
ENST00000682933.1:n.1917-11C>T
ENST00000683072.1:n.2425-11C>T
ENST00000683082.1:n.1861-11C>T
ENST00000683125.1:c.1843-11C>T	ENSP00000507939.1:n.1843-11C>T
ENST00000683213.1:c.1846-11C>T	ENSP00000507751.1:n.1846-11C>T
ENST00000683220.1:c.1873-11C>T	ENSP00000507151.1:n.1873-11C>T
ENST00000683329.1:n.2646-11C>T
ENST00000683346.1:c.*1718-11C>T	ENSP00000507458.1:n.*1718-11C>T
ENST00000683459.1:n.2430-11C>T
ENST00000683590.1:c.1843-11C>T	ENSP00000506820.1:n.1843-11C>T
ENST00000683623.1:c.1843-11C>T	ENSP00000507702.1:n.1843-11C>T
ENST00000683645.1:n.2383C>T
ENST00000683694.1:n.594-11C>T
ENST00000683796.1:c.*1715-11C>T	ENSP00000508221.1:n.*1715-11C>T
ENST00000683802.1:n.4768-11C>T
ENST00000683833.1:c.1834-11C>T	ENSP00000506852.1:n.1834-11C>T
ENST00000683934.1:c.1729-11C>T
ENST00000683989.1:c.1843-11C>T	ENSP00000507510.1:n.1843-11C>T
ENST00000683994.1:c.1843-11C>T	ENSP00000507181.1:n.1843-11C>T
ENST00000684290.1:c.1843-11C>T	ENSP00000507243.1:n.1843-11C>T
ENST00000684306.1:c.*1756-11C>T	ENSP00000508384.1:n.*1756-11C>T
ENST00000684341.1:n.1863-11C>T
ENST00000684383.1:c.*1481-11C>T	ENSP00000506863.1:n.*1481-11C>T
ENST00000684482.1:c.4312-11C>T
ENST00000684619.1:c.*1715-11C>T	ENSP00000508088.1:n.*1715-11C>T
ENST00000684743.1:n.2874-11C>T
ENST00000260665.12:c.1843-11C>T MANE Select	ENSP00000260665.7:n.1843-11C>T
ENST00000260665.11:c.1843-11C>T	ENSP00000260665.7:n.1843-11C>T
NM_133259.3:c.1843-11C>T	NP_573566.2:n.1843-11C>T
XM_006711915.2:c.1765-11C>T	XP_006711978.1:n.1765-11C>T
XM_006711916.2:c.1843-11C>T	XP_006711979.1:n.1843-11C>T
XM_011532473.1:c.1843-11C>T	XP_011530775.1:n.1843-11C>T
XM_011532474.1:c.1843-11C>T	XP_011530776.1:n.1843-11C>T
XM_006711916.3:c.1843-11C>T	XP_006711979.1:n.1843-11C>T
XM_017003117.1:c.1765-11C>T	XP_016858606.1:n.1765-11C>T
XR_002958896.1:n.1885-11C>T
NM_133259.4:c.1843-11C>T MANE Select	NP_573566.2:n.1843-11C>T