Canonical Allele Identifier: CA346664856
Gene: LRPPRC HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43905699A>C , CM000664.2:g.43905699A>C GRCh38
NC_000002.11:g.44132838A>C , CM000664.1:g.44132838A>C GRCh37
NC_000002.10:g.43986342A>C NCBI36
NG_008247.1:g.95307T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000472420.6:n.436T>G
ENST00000681993.1:n.909T>G
ENST00000682295.1:c.512T>G ENSP00000507499.1:n.512T>G
ENST00000682303.1:c.*3143T>G ENSP00000508325.1:n.*3143T>G
ENST00000682308.1:c.3357T>G ENSP00000507056.1:p.Tyr1119Ter
ENST00000682480.1:c.3375T>G ENSP00000508344.1:p.Tyr1125Ter
ENST00000682546.1:c.3354T>G ENSP00000508188.1:p.Tyr1118Ter
ENST00000682585.1:c.3357T>G ENSP00000506885.1:p.Tyr1119Ter
ENST00000682595.1:n.3941T>G
ENST00000682607.1:c.1775T>G
ENST00000682612.1:c.209T>G
ENST00000682779.1:c.3348T>G ENSP00000507947.1:p.Tyr1116Ter
ENST00000682845.1:n.2459T>G
ENST00000682885.1:c.3312T>G ENSP00000508036.1:p.Tyr1104Ter
ENST00000682933.1:n.3431T>G
ENST00000683002.1:c.209T>G
ENST00000683072.1:n.3941T>G
ENST00000683080.1:n.976T>G
ENST00000683125.1:c.3465T>G ENSP00000507939.1:p.Tyr1155Ter
ENST00000683213.1:c.3360T>G ENSP00000507751.1:p.Tyr1120Ter
ENST00000683220.1:c.3387T>G ENSP00000507151.1:p.Tyr1129Ter
ENST00000683329.1:n.4160T>G
ENST00000683346.1:c.*3232T>G ENSP00000507458.1:n.*3232T>G
ENST00000683409.1:n.1964T>G
ENST00000683459.1:n.3944T>G
ENST00000683528.1:c.209T>G
ENST00000683590.1:c.3105T>G ENSP00000506820.1:p.Tyr1035Ter
ENST00000683623.1:c.3264T>G ENSP00000507702.1:p.Tyr1088Ter
ENST00000683645.1:n.3908T>G
ENST00000683796.1:c.*3229T>G ENSP00000508221.1:n.*3229T>G
ENST00000683802.1:n.6282T>G
ENST00000683833.1:c.3348T>G ENSP00000506852.1:p.Tyr1116Ter
ENST00000683994.1:c.3357T>G ENSP00000507181.1:p.Tyr1119Ter
ENST00000684290.1:c.*893T>G ENSP00000507243.1:n.*893T>G
ENST00000684306.1:c.*3270T>G ENSP00000508384.1:n.*3270T>G
ENST00000684341.1:n.3377T>G
ENST00000684383.1:c.*2995T>G ENSP00000506863.1:n.*2995T>G
ENST00000684418.1:n.4538T>G
ENST00000684454.1:n.2707T>G
ENST00000684619.1:c.*3229T>G ENSP00000508088.1:n.*3229T>G
ENST00000684743.1:n.4388T>G
ENST00000260665.12:c.3357T>G MANE Select ENSP00000260665.7:p.Tyr1119Ter
ENST00000260665.11:c.3357T>G ENSP00000260665.7:p.Tyr1119Ter
NM_133259.3:c.3357T>G NP_573566.2:p.Tyr1119Ter
XM_006711915.2:c.3279T>G XP_006711978.1:p.Tyr1093Ter
XM_011532473.1:c.3357T>G XP_011530775.1:p.Tyr1119Ter
XM_011532474.1:c.3357T>G XP_011530776.1:p.Tyr1119Ter
XM_017003117.1:c.3279T>G XP_016858606.1:p.Tyr1093Ter
XR_002958896.1:n.3399T>G
NM_133259.4:c.3357T>G MANE Select NP_573566.2:p.Tyr1119Ter