Canonical Allele Identifier: CA1638255

Gene: LRPPRC

Linked Data

• dbSNP Id: rs778888090
• ExAC: 2:44145505 C / T
• gnomAD v2: 2-44145505-C-T
• gnomAD v4: 2-43918366-C-T
• MyVariant Identifiers: chr2:g.44145505C>T (hg19) ; chr2:g.43918366C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918366C>T , CM000664.2:g.43918366C>T	GRCh38
NC_000002.11:g.44145505C>T , CM000664.1:g.44145505C>T	GRCh37
NC_000002.10:g.43999009C>T	NCBI36
NG_008247.1:g.82640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.481G>A
ENST00000682295.1:c.193G>A	ENSP00000507499.1:p.Val65Ile
ENST00000682303.1:c.*2715G>A	ENSP00000508325.1:n.*2715G>A
ENST00000682308.1:c.2929G>A	ENSP00000507056.1:p.Val977Ile
ENST00000682480.1:c.2929G>A	ENSP00000508344.1:p.Val977Ile
ENST00000682546.1:c.2926G>A	ENSP00000508188.1:p.Val976Ile
ENST00000682585.1:c.2929G>A	ENSP00000506885.1:p.Val977Ile
ENST00000682595.1:n.3513G>A
ENST00000682607.1:c.1347G>A
ENST00000682779.1:c.2920G>A	ENSP00000507947.1:p.Val974Ile
ENST00000682845.1:n.2031G>A
ENST00000682885.1:c.2884G>A	ENSP00000508036.1:p.Val962Ile
ENST00000682933.1:n.3003G>A
ENST00000683072.1:n.3513G>A
ENST00000683080.1:n.548G>A
ENST00000683125.1:c.3037G>A	ENSP00000507939.1:p.Val1013Ile
ENST00000683213.1:c.2932G>A	ENSP00000507751.1:p.Val978Ile
ENST00000683220.1:c.2959G>A	ENSP00000507151.1:p.Val987Ile
ENST00000683236.1:c.259G>A	ENSP00000506891.1:n.259G>A
ENST00000683329.1:n.3732G>A
ENST00000683346.1:c.*2804G>A	ENSP00000507458.1:n.*2804G>A
ENST00000683409.1:n.1536G>A
ENST00000683459.1:n.3516G>A
ENST00000683590.1:c.2897-5808G>A	ENSP00000506820.1:n.2897-5808G>A
ENST00000683623.1:c.2836G>A	ENSP00000507702.1:p.Val946Ile
ENST00000683645.1:n.3480G>A
ENST00000683796.1:c.*2801G>A	ENSP00000508221.1:n.*2801G>A
ENST00000683802.1:n.5854G>A
ENST00000683833.1:c.2920G>A	ENSP00000506852.1:p.Val974Ile
ENST00000683994.1:c.2929G>A	ENSP00000507181.1:p.Val977Ile
ENST00000684290.1:c.*465G>A	ENSP00000507243.1:n.*465G>A
ENST00000684306.1:c.*2842G>A	ENSP00000508384.1:n.*2842G>A
ENST00000684341.1:n.2949G>A
ENST00000684383.1:c.*2567G>A	ENSP00000506863.1:n.*2567G>A
ENST00000684619.1:c.*2801G>A	ENSP00000508088.1:n.*2801G>A
ENST00000684705.1:n.50G>A
ENST00000684743.1:n.3960G>A
ENST00000260665.12:c.2929G>A MANE Select	ENSP00000260665.7:p.Val977Ile
ENST00000260665.11:c.2929G>A	ENSP00000260665.7:p.Val977Ile
NM_133259.3:c.2929G>A	NP_573566.2:p.Val977Ile
XM_006711915.2:c.2851G>A	XP_006711978.1:p.Val951Ile
XM_006711916.2:c.2929G>A	XP_006711979.1:p.Val977Ile
XM_011532473.1:c.2929G>A	XP_011530775.1:p.Val977Ile
XM_011532474.1:c.2929G>A	XP_011530776.1:p.Val977Ile
XM_006711916.3:c.2929G>A	XP_006711979.1:p.Val977Ile
XM_017003117.1:c.2851G>A	XP_016858606.1:p.Val951Ile
XR_002958896.1:n.2971G>A
NM_133259.4:c.2929G>A MANE Select	NP_573566.2:p.Val977Ile