Canonical Allele Identifier: CA346676088
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948159T>G , CM000664.2:g.43948159T>G GRCh38
NC_000002.11:g.44175298T>G , CM000664.1:g.44175298T>G GRCh37
NC_000002.10:g.44028802T>G NCBI36
NG_008247.1:g.52847A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1883A>C ENSP00000386562.2:p.Asn628Thr
ENST00000447246.2:c.1883A>C ENSP00000403637.2:p.Asn628Thr
ENST00000467058.2:n.612A>C
ENST00000681959.1:n.1497A>C
ENST00000681961.1:n.1903A>C
ENST00000682104.1:c.1757A>C ENSP00000507716.1:p.Asn586Thr
ENST00000682303.1:c.*1755A>C ENSP00000508325.1:n.*1755A>C
ENST00000682308.1:c.1883A>C ENSP00000507056.1:p.Asn628Thr
ENST00000682480.1:c.1883A>C ENSP00000508344.1:p.Asn628Thr
ENST00000682546.1:c.1880A>C ENSP00000508188.1:p.Asn627Thr
ENST00000682585.1:c.1883A>C ENSP00000506885.1:p.Asn628Thr
ENST00000682595.1:n.2465A>C
ENST00000682607.1:c.301A>C
ENST00000682779.1:c.1874A>C ENSP00000507947.1:p.Asn625Thr
ENST00000682885.1:c.1883A>C ENSP00000508036.1:p.Asn628Thr
ENST00000682933.1:n.1957A>C
ENST00000683072.1:n.2465A>C
ENST00000683082.1:n.1901A>C
ENST00000683125.1:c.1883A>C ENSP00000507939.1:p.Asn628Thr
ENST00000683213.1:c.1886A>C ENSP00000507751.1:p.Asn629Thr
ENST00000683220.1:c.1913A>C ENSP00000507151.1:p.Asn638Thr
ENST00000683329.1:n.2686A>C
ENST00000683346.1:c.*1758A>C ENSP00000507458.1:n.*1758A>C
ENST00000683459.1:n.2470A>C
ENST00000683590.1:c.1883A>C ENSP00000506820.1:p.Asn628Thr
ENST00000683623.1:c.1883A>C ENSP00000507702.1:p.Asn628Thr
ENST00000683645.1:n.2434A>C
ENST00000683694.1:n.634A>C
ENST00000683796.1:c.*1755A>C ENSP00000508221.1:n.*1755A>C
ENST00000683802.1:n.4808A>C
ENST00000683833.1:c.1874A>C ENSP00000506852.1:p.Asn625Thr
ENST00000683934.1:c.1769A>C
ENST00000683989.1:c.1883A>C ENSP00000507510.1:p.Asn628Thr
ENST00000683994.1:c.1883A>C ENSP00000507181.1:p.Asn628Thr
ENST00000684290.1:c.1883A>C ENSP00000507243.1:p.Asn628Thr
ENST00000684306.1:c.*1796A>C ENSP00000508384.1:n.*1796A>C
ENST00000684341.1:n.1903A>C
ENST00000684383.1:c.*1521A>C ENSP00000506863.1:n.*1521A>C
ENST00000684482.1:c.4352A>C
ENST00000684619.1:c.*1755A>C ENSP00000508088.1:n.*1755A>C
ENST00000684743.1:n.2914A>C
ENST00000260665.12:c.1883A>C MANE Select ENSP00000260665.7:p.Asn628Thr
ENST00000260665.11:c.1883A>C ENSP00000260665.7:p.Asn628Thr
NM_133259.3:c.1883A>C NP_573566.2:p.Asn628Thr
XM_006711915.2:c.1805A>C XP_006711978.1:p.Asn602Thr
XM_006711916.2:c.1883A>C XP_006711979.1:p.Asn628Thr
XM_011532473.1:c.1883A>C XP_011530775.1:p.Asn628Thr
XM_011532474.1:c.1883A>C XP_011530776.1:p.Asn628Thr
XM_006711916.3:c.1883A>C XP_006711979.1:p.Asn628Thr
XM_017003117.1:c.1805A>C XP_016858606.1:p.Asn602Thr
XR_002958896.1:n.1925A>C
NM_133259.4:c.1883A>C MANE Select NP_573566.2:p.Asn628Thr