Canonical Allele Identifier: CA346676092
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1883A>T ENSP00000386562.2:p.Asn628Ile
ENST00000447246.2:c.1883A>T ENSP00000403637.2:p.Asn628Ile
ENST00000467058.2:n.612A>T
ENST00000681959.1:n.1497A>T
ENST00000681961.1:n.1903A>T
ENST00000682104.1:c.1757A>T ENSP00000507716.1:p.Asn586Ile
ENST00000682303.1:c.*1755A>T ENSP00000508325.1:n.*1755A>T
ENST00000682308.1:c.1883A>T ENSP00000507056.1:p.Asn628Ile
ENST00000682480.1:c.1883A>T ENSP00000508344.1:p.Asn628Ile
ENST00000682546.1:c.1880A>T ENSP00000508188.1:p.Asn627Ile
ENST00000682585.1:c.1883A>T ENSP00000506885.1:p.Asn628Ile
ENST00000682595.1:n.2465A>T
ENST00000682607.1:c.301A>T
ENST00000682779.1:c.1874A>T ENSP00000507947.1:p.Asn625Ile
ENST00000682885.1:c.1883A>T ENSP00000508036.1:p.Asn628Ile
ENST00000682933.1:n.1957A>T
ENST00000683072.1:n.2465A>T
ENST00000683082.1:n.1901A>T
ENST00000683125.1:c.1883A>T ENSP00000507939.1:p.Asn628Ile
ENST00000683213.1:c.1886A>T ENSP00000507751.1:p.Asn629Ile
ENST00000683220.1:c.1913A>T ENSP00000507151.1:p.Asn638Ile
ENST00000683329.1:n.2686A>T
ENST00000683346.1:c.*1758A>T ENSP00000507458.1:n.*1758A>T
ENST00000683459.1:n.2470A>T
ENST00000683590.1:c.1883A>T ENSP00000506820.1:p.Asn628Ile
ENST00000683623.1:c.1883A>T ENSP00000507702.1:p.Asn628Ile
ENST00000683645.1:n.2434A>T
ENST00000683694.1:n.634A>T
ENST00000683796.1:c.*1755A>T ENSP00000508221.1:n.*1755A>T
ENST00000683802.1:n.4808A>T
ENST00000683833.1:c.1874A>T ENSP00000506852.1:p.Asn625Ile
ENST00000683934.1:c.1769A>T
ENST00000683989.1:c.1883A>T ENSP00000507510.1:p.Asn628Ile
ENST00000683994.1:c.1883A>T ENSP00000507181.1:p.Asn628Ile
ENST00000684290.1:c.1883A>T ENSP00000507243.1:p.Asn628Ile
ENST00000684306.1:c.*1796A>T ENSP00000508384.1:n.*1796A>T
ENST00000684341.1:n.1903A>T
ENST00000684383.1:c.*1521A>T ENSP00000506863.1:n.*1521A>T
ENST00000684482.1:c.4352A>T
ENST00000684619.1:c.*1755A>T ENSP00000508088.1:n.*1755A>T
ENST00000684743.1:n.2914A>T
ENST00000260665.12:c.1883A>T MANE Select ENSP00000260665.7:p.Asn628Ile
ENST00000260665.11:c.1883A>T ENSP00000260665.7:p.Asn628Ile
NM_133259.3:c.1883A>T NP_573566.2:p.Asn628Ile
XM_006711915.2:c.1805A>T XP_006711978.1:p.Asn602Ile
XM_006711916.2:c.1883A>T XP_006711979.1:p.Asn628Ile
XM_011532473.1:c.1883A>T XP_011530775.1:p.Asn628Ile
XM_011532474.1:c.1883A>T XP_011530776.1:p.Asn628Ile
XM_006711916.3:c.1883A>T XP_006711979.1:p.Asn628Ile
XM_017003117.1:c.1805A>T XP_016858606.1:p.Asn602Ile
XR_002958896.1:n.1925A>T
NM_133259.4:c.1883A>T MANE Select NP_573566.2:p.Asn628Ile