Canonical Allele Identifier: CA346671864

Gene: LRPPRC

Linked Data

• ClinVar Variation Id: 557326
• ClinVar RCV Id: RCV000673452 ; RCV002285020
• dbSNP Id: rs1553400727
• MyVariant Identifiers: chr2:g.44162018C>A (hg19) ; chr2:g.43934879C>A (hg38)
• MutSpliceDB: CA346671864

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43934879C>A , CM000664.2:g.43934879C>A	GRCh38
NC_000002.11:g.44162018C>A , CM000664.1:g.44162018C>A	GRCh37
NC_000002.10:g.44015522C>A	NCBI36
NG_008247.1:g.66127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681961.1:n.2525-1G>T
ENST00000682303.1:c.*2291-1G>T	ENSP00000508325.1:n.*2291-1G>T
ENST00000682308.1:c.2505-1G>T	ENSP00000507056.1:n.2505-1G>T
ENST00000682480.1:c.2505-1G>T	ENSP00000508344.1:n.2505-1G>T
ENST00000682546.1:c.2502-1G>T	ENSP00000508188.1:n.2502-1G>T
ENST00000682585.1:c.2505-1G>T	ENSP00000506885.1:n.2505-1G>T
ENST00000682595.1:n.3087-1G>T
ENST00000682607.1:c.923-1G>T
ENST00000682779.1:c.2496-1G>T	ENSP00000507947.1:n.2496-1G>T
ENST00000682845.1:n.1607-1G>T
ENST00000682885.1:c.2460-1G>T	ENSP00000508036.1:n.2460-1G>T
ENST00000682933.1:n.2579-1G>T
ENST00000683072.1:n.3087-1G>T
ENST00000683125.1:c.2505-1G>T	ENSP00000507939.1:n.2505-1G>T
ENST00000683213.1:c.2508-1G>T	ENSP00000507751.1:n.2508-1G>T
ENST00000683220.1:c.2535-1G>T	ENSP00000507151.1:n.2535-1G>T
ENST00000683329.1:n.3308-1G>T
ENST00000683346.1:c.*2380-1G>T	ENSP00000507458.1:n.*2380-1G>T
ENST00000683459.1:n.3092-1G>T
ENST00000683590.1:c.2505-1G>T	ENSP00000506820.1:n.2505-1G>T
ENST00000683623.1:c.2412-1G>T	ENSP00000507702.1:n.2412-1G>T
ENST00000683645.1:n.3056-1G>T
ENST00000683694.1:n.1256-1G>T
ENST00000683796.1:c.*2377-1G>T	ENSP00000508221.1:n.*2377-1G>T
ENST00000683802.1:n.5430-1G>T
ENST00000683833.1:c.2496-1G>T	ENSP00000506852.1:n.2496-1G>T
ENST00000683989.1:c.2505-1G>T	ENSP00000507510.1:n.2505-1G>T
ENST00000683994.1:c.2505-1G>T	ENSP00000507181.1:n.2505-1G>T
ENST00000684290.1:c.*199-1G>T	ENSP00000507243.1:n.*199-1G>T
ENST00000684306.1:c.*2418-1G>T	ENSP00000508384.1:n.*2418-1G>T
ENST00000684341.1:n.2525-1G>T
ENST00000684383.1:c.*2143-1G>T	ENSP00000506863.1:n.*2143-1G>T
ENST00000684397.1:c.209-1G>T
ENST00000684619.1:c.*2377-1G>T	ENSP00000508088.1:n.*2377-1G>T
ENST00000684743.1:n.3536-1G>T
ENST00000260665.12:c.2505-1G>T MANE Select	ENSP00000260665.7:n.2505-1G>T
ENST00000260665.11:c.2505-1G>T	ENSP00000260665.7:n.2505-1G>T
NM_133259.3:c.2505-1G>T	NP_573566.2:n.2505-1G>T
XM_006711915.2:c.2427-1G>T	XP_006711978.1:n.2427-1G>T
XM_006711916.2:c.2505-1G>T	XP_006711979.1:n.2505-1G>T
XM_011532473.1:c.2505-1G>T	XP_011530775.1:n.2505-1G>T
XM_011532474.1:c.2505-1G>T	XP_011530776.1:n.2505-1G>T
XM_006711916.3:c.2505-1G>T	XP_006711979.1:n.2505-1G>T
XM_017003117.1:c.2427-1G>T	XP_016858606.1:n.2427-1G>T
XR_002958896.1:n.2547-1G>T
NM_133259.4:c.2505-1G>T MANE Select	NP_573566.2:n.2505-1G>T