Canonical Allele Identifier: CA346668680

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44145531T>A (hg19) ; chr2:g.43918392T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43918392T>A , CM000664.2:g.43918392T>A	GRCh38
NC_000002.11:g.44145531T>A , CM000664.1:g.44145531T>A	GRCh37
NC_000002.10:g.43999035T>A	NCBI36
NG_008247.1:g.82614A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681993.1:n.455A>T
ENST00000682295.1:c.167A>T	ENSP00000507499.1:p.Asn56Ile
ENST00000682303.1:c.*2689A>T	ENSP00000508325.1:n.*2689A>T
ENST00000682308.1:c.2903A>T	ENSP00000507056.1:p.Asn968Ile
ENST00000682480.1:c.2903A>T	ENSP00000508344.1:p.Asn968Ile
ENST00000682546.1:c.2900A>T	ENSP00000508188.1:p.Asn967Ile
ENST00000682585.1:c.2903A>T	ENSP00000506885.1:p.Asn968Ile
ENST00000682595.1:n.3487A>T
ENST00000682607.1:c.1321A>T
ENST00000682779.1:c.2894A>T	ENSP00000507947.1:p.Asn965Ile
ENST00000682845.1:n.2005A>T
ENST00000682885.1:c.2858A>T	ENSP00000508036.1:p.Asn953Ile
ENST00000682933.1:n.2977A>T
ENST00000683072.1:n.3487A>T
ENST00000683080.1:n.522A>T
ENST00000683125.1:c.3011A>T	ENSP00000507939.1:p.Asn1004Ile
ENST00000683213.1:c.2906A>T	ENSP00000507751.1:p.Asn969Ile
ENST00000683220.1:c.2933A>T	ENSP00000507151.1:p.Asn978Ile
ENST00000683236.1:c.233A>T	ENSP00000506891.1:n.233A>T
ENST00000683329.1:n.3706A>T
ENST00000683346.1:c.*2778A>T	ENSP00000507458.1:n.*2778A>T
ENST00000683409.1:n.1510A>T
ENST00000683459.1:n.3490A>T
ENST00000683590.1:c.2897-5834A>T	ENSP00000506820.1:n.2897-5834A>T
ENST00000683623.1:c.2810A>T	ENSP00000507702.1:p.Asn937Ile
ENST00000683645.1:n.3454A>T
ENST00000683796.1:c.*2775A>T	ENSP00000508221.1:n.*2775A>T
ENST00000683802.1:n.5828A>T
ENST00000683833.1:c.2894A>T	ENSP00000506852.1:p.Asn965Ile
ENST00000683994.1:c.2903A>T	ENSP00000507181.1:p.Asn968Ile
ENST00000684290.1:c.*439A>T	ENSP00000507243.1:n.*439A>T
ENST00000684306.1:c.*2816A>T	ENSP00000508384.1:n.*2816A>T
ENST00000684341.1:n.2923A>T
ENST00000684383.1:c.*2541A>T	ENSP00000506863.1:n.*2541A>T
ENST00000684619.1:c.*2775A>T	ENSP00000508088.1:n.*2775A>T
ENST00000684705.1:n.24A>T
ENST00000684743.1:n.3934A>T
ENST00000260665.12:c.2903A>T MANE Select	ENSP00000260665.7:p.Asn968Ile
ENST00000260665.11:c.2903A>T	ENSP00000260665.7:p.Asn968Ile
NM_133259.3:c.2903A>T	NP_573566.2:p.Asn968Ile
XM_006711915.2:c.2825A>T	XP_006711978.1:p.Asn942Ile
XM_006711916.2:c.2903A>T	XP_006711979.1:p.Asn968Ile
XM_011532473.1:c.2903A>T	XP_011530775.1:p.Asn968Ile
XM_011532474.1:c.2903A>T	XP_011530776.1:p.Asn968Ile
XM_006711916.3:c.2903A>T	XP_006711979.1:p.Asn968Ile
XM_017003117.1:c.2825A>T	XP_016858606.1:p.Asn942Ile
XR_002958896.1:n.2945A>T
NM_133259.4:c.2903A>T MANE Select	NP_573566.2:p.Asn968Ile