Canonical Allele Identifier: CA346676050

Gene: LRPPRC

Linked Data

• MyVariant Identifiers: chr2:g.44175288T>A (hg19) ; chr2:g.43948149T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43948149T>A , CM000664.2:g.43948149T>A	GRCh38
NC_000002.11:g.44175288T>A , CM000664.1:g.44175288T>A	GRCh37
NC_000002.10:g.44028792T>A	NCBI36
NG_008247.1:g.52857A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000409659.6:c.1893A>T	ENSP00000386562.2:p.Glu631Asp
ENST00000447246.2:c.1893A>T	ENSP00000403637.2:p.Glu631Asp
ENST00000681959.1:n.1507A>T
ENST00000681961.1:n.1913A>T
ENST00000682104.1:c.1767A>T	ENSP00000507716.1:p.Glu589Asp
ENST00000682303.1:c.*1765A>T	ENSP00000508325.1:n.*1765A>T
ENST00000682308.1:c.1893A>T	ENSP00000507056.1:p.Glu631Asp
ENST00000682480.1:c.1893A>T	ENSP00000508344.1:p.Glu631Asp
ENST00000682546.1:c.1890A>T	ENSP00000508188.1:p.Glu630Asp
ENST00000682585.1:c.1893A>T	ENSP00000506885.1:p.Glu631Asp
ENST00000682595.1:n.2475A>T
ENST00000682607.1:c.311A>T
ENST00000682779.1:c.1884A>T	ENSP00000507947.1:p.Glu628Asp
ENST00000682885.1:c.1893A>T	ENSP00000508036.1:p.Glu631Asp
ENST00000682933.1:n.1967A>T
ENST00000683072.1:n.2475A>T
ENST00000683082.1:n.1911A>T
ENST00000683125.1:c.1893A>T	ENSP00000507939.1:p.Glu631Asp
ENST00000683213.1:c.1896A>T	ENSP00000507751.1:p.Glu632Asp
ENST00000683220.1:c.1923A>T	ENSP00000507151.1:p.Glu641Asp
ENST00000683329.1:n.2696A>T
ENST00000683346.1:c.*1768A>T	ENSP00000507458.1:n.*1768A>T
ENST00000683459.1:n.2480A>T
ENST00000683590.1:c.1893A>T	ENSP00000506820.1:p.Glu631Asp
ENST00000683623.1:c.1893A>T	ENSP00000507702.1:p.Glu631Asp
ENST00000683645.1:n.2444A>T
ENST00000683694.1:n.644A>T
ENST00000683796.1:c.*1765A>T	ENSP00000508221.1:n.*1765A>T
ENST00000683802.1:n.4818A>T
ENST00000683833.1:c.1884A>T	ENSP00000506852.1:p.Glu628Asp
ENST00000683934.1:c.1779A>T
ENST00000683989.1:c.1893A>T	ENSP00000507510.1:p.Glu631Asp
ENST00000683994.1:c.1893A>T	ENSP00000507181.1:p.Glu631Asp
ENST00000684290.1:c.1893A>T	ENSP00000507243.1:p.Glu631Asp
ENST00000684306.1:c.*1806A>T	ENSP00000508384.1:n.*1806A>T
ENST00000684341.1:n.1913A>T
ENST00000684383.1:c.*1531A>T	ENSP00000506863.1:n.*1531A>T
ENST00000684482.1:c.4362A>T
ENST00000684619.1:c.*1765A>T	ENSP00000508088.1:n.*1765A>T
ENST00000684743.1:n.2924A>T
ENST00000260665.12:c.1893A>T MANE Select	ENSP00000260665.7:p.Glu631Asp
ENST00000260665.11:c.1893A>T	ENSP00000260665.7:p.Glu631Asp
NM_133259.3:c.1893A>T	NP_573566.2:p.Glu631Asp
XM_006711915.2:c.1815A>T	XP_006711978.1:p.Glu605Asp
XM_006711916.2:c.1893A>T	XP_006711979.1:p.Glu631Asp
XM_011532473.1:c.1893A>T	XP_011530775.1:p.Glu631Asp
XM_011532474.1:c.1893A>T	XP_011530776.1:p.Glu631Asp
XM_006711916.3:c.1893A>T	XP_006711979.1:p.Glu631Asp
XM_017003117.1:c.1815A>T	XP_016858606.1:p.Glu605Asp
XR_002958896.1:n.1935A>T
NM_133259.4:c.1893A>T MANE Select	NP_573566.2:p.Glu631Asp