Canonical Allele Identifier: CA346675939
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43948123T>A , CM000664.2:g.43948123T>A GRCh38
NC_000002.11:g.44175262T>A , CM000664.1:g.44175262T>A GRCh37
NC_000002.10:g.44028766T>A NCBI36
NG_008247.1:g.52883A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409659.6:c.1919A>T ENSP00000386562.2:p.Lys640Met
ENST00000447246.2:c.1919A>T ENSP00000403637.2:p.Lys640Met
ENST00000681959.1:n.1533A>T
ENST00000681961.1:n.1939A>T
ENST00000682104.1:c.1793A>T ENSP00000507716.1:p.Lys598Met
ENST00000682303.1:c.*1791A>T ENSP00000508325.1:n.*1791A>T
ENST00000682308.1:c.1919A>T ENSP00000507056.1:p.Lys640Met
ENST00000682480.1:c.1919A>T ENSP00000508344.1:p.Lys640Met
ENST00000682546.1:c.1916A>T ENSP00000508188.1:p.Lys639Met
ENST00000682585.1:c.1919A>T ENSP00000506885.1:p.Lys640Met
ENST00000682595.1:n.2501A>T
ENST00000682607.1:c.337A>T
ENST00000682779.1:c.1910A>T ENSP00000507947.1:p.Lys637Met
ENST00000682885.1:c.1919A>T ENSP00000508036.1:p.Lys640Met
ENST00000682933.1:n.1993A>T
ENST00000683072.1:n.2501A>T
ENST00000683082.1:n.1937A>T
ENST00000683125.1:c.1919A>T ENSP00000507939.1:p.Lys640Met
ENST00000683213.1:c.1922A>T ENSP00000507751.1:p.Lys641Met
ENST00000683220.1:c.1949A>T ENSP00000507151.1:p.Lys650Met
ENST00000683329.1:n.2722A>T
ENST00000683346.1:c.*1794A>T ENSP00000507458.1:n.*1794A>T
ENST00000683459.1:n.2506A>T
ENST00000683590.1:c.1919A>T ENSP00000506820.1:p.Lys640Met
ENST00000683623.1:c.1919A>T ENSP00000507702.1:p.Lys640Met
ENST00000683645.1:n.2470A>T
ENST00000683694.1:n.670A>T
ENST00000683796.1:c.*1791A>T ENSP00000508221.1:n.*1791A>T
ENST00000683802.1:n.4844A>T
ENST00000683833.1:c.1910A>T ENSP00000506852.1:p.Lys637Met
ENST00000683934.1:c.1805A>T
ENST00000683989.1:c.1919A>T ENSP00000507510.1:p.Lys640Met
ENST00000683994.1:c.1919A>T ENSP00000507181.1:p.Lys640Met
ENST00000684290.1:c.1919A>T ENSP00000507243.1:p.Lys640Met
ENST00000684306.1:c.*1832A>T ENSP00000508384.1:n.*1832A>T
ENST00000684341.1:n.1939A>T
ENST00000684383.1:c.*1557A>T ENSP00000506863.1:n.*1557A>T
ENST00000684482.1:c.4388A>T
ENST00000684619.1:c.*1791A>T ENSP00000508088.1:n.*1791A>T
ENST00000684743.1:n.2950A>T
ENST00000260665.12:c.1919A>T MANE Select ENSP00000260665.7:p.Lys640Met
ENST00000260665.11:c.1919A>T ENSP00000260665.7:p.Lys640Met
NM_133259.3:c.1919A>T NP_573566.2:p.Lys640Met
XM_006711915.2:c.1841A>T XP_006711978.1:p.Lys614Met
XM_006711916.2:c.1919A>T XP_006711979.1:p.Lys640Met
XM_011532473.1:c.1919A>T XP_011530775.1:p.Lys640Met
XM_011532474.1:c.1919A>T XP_011530776.1:p.Lys640Met
XM_006711916.3:c.1919A>T XP_006711979.1:p.Lys640Met
XM_017003117.1:c.1841A>T XP_016858606.1:p.Lys614Met
XR_002958896.1:n.1961A>T
NM_133259.4:c.1919A>T MANE Select NP_573566.2:p.Lys640Met