Canonical Allele Identifier: CA324789
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 214597
dbSNP Id: rs863224052
gnomAD v4: 2-43894567-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43894567G>T , CM000664.2:g.43894567G>T GRCh38
NC_000002.11:g.44121706G>T , CM000664.1:g.44121706G>T GRCh37
NC_000002.10:g.43975210G>T NCBI36
NG_008247.1:g.106439C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000419884.6:c.593C>A
ENST00000681993.1:n.1515C>A
ENST00000682154.1:n.1397C>A
ENST00000682303.1:c.*3674C>A ENSP00000508325.1:n.*3674C>A
ENST00000682308.1:c.3888C>A ENSP00000507056.1:p.Tyr1296Ter
ENST00000682434.1:n.3518C>A
ENST00000682480.1:c.3981C>A ENSP00000508344.1:p.Tyr1327Ter
ENST00000682546.1:c.3960C>A ENSP00000508188.1:p.Tyr1320Ter
ENST00000682585.1:c.*91C>A ENSP00000506885.1:n.*91C>A
ENST00000682607.1:c.2706C>A
ENST00000682612.1:c.752+2067C>A
ENST00000682696.1:c.63C>A ENSP00000508411.1:p.Tyr21Ter
ENST00000682779.1:c.3954C>A ENSP00000507947.1:p.Tyr1318Ter
ENST00000682885.1:c.3918C>A ENSP00000508036.1:p.Tyr1306Ter
ENST00000682933.1:n.4163C>A
ENST00000683002.1:c.815C>A
ENST00000683072.1:n.4547C>A
ENST00000683080.1:n.1582C>A
ENST00000683096.1:n.2404C>A
ENST00000683125.1:c.4071C>A ENSP00000507939.1:p.Tyr1357Ter
ENST00000683213.1:c.3966C>A ENSP00000507751.1:p.Tyr1322Ter
ENST00000683220.1:c.3993C>A ENSP00000507151.1:p.Tyr1331Ter
ENST00000683329.1:n.4766C>A
ENST00000683346.1:c.*3838C>A ENSP00000507458.1:n.*3838C>A
ENST00000683409.1:n.2495C>A
ENST00000683459.1:n.4550C>A
ENST00000683590.1:c.3636C>A ENSP00000506820.1:p.Tyr1212Ter
ENST00000683623.1:c.3870C>A ENSP00000507702.1:p.Tyr1290Ter
ENST00000683796.1:c.*3760C>A ENSP00000508221.1:n.*3760C>A
ENST00000683833.1:c.3879C>A ENSP00000506852.1:p.Tyr1293Ter
ENST00000683994.1:c.*76C>A ENSP00000507181.1:n.*76C>A
ENST00000684290.1:c.*1424C>A ENSP00000507243.1:n.*1424C>A
ENST00000684306.1:c.*3876C>A ENSP00000508384.1:n.*3876C>A
ENST00000684383.1:c.*3601C>A ENSP00000506863.1:n.*3601C>A
ENST00000684418.1:n.5144C>A
ENST00000684433.1:n.347C>A
ENST00000684454.1:n.7827C>A
ENST00000684619.1:c.*3835C>A ENSP00000508088.1:n.*3835C>A
ENST00000684743.1:n.6708C>A
ENST00000260665.12:c.3963C>A MANE Select ENSP00000260665.7:p.Tyr1321Ter
ENST00000260665.11:c.3963C>A ENSP00000260665.7:p.Tyr1321Ter
ENST00000419884.5:c.204C>A ENSP00000414207.1:p.Tyr68Ter
ENST00000463456.5:n.3006C>A
NM_133259.3:c.3963C>A NP_573566.2:p.Tyr1321Ter
XM_006711915.2:c.3885C>A XP_006711978.1:p.Tyr1295Ter
XM_011532473.1:c.3888C>A XP_011530775.1:p.Tyr1296Ter
XM_011532474.1:c.3963C>A XP_011530776.1:p.Tyr1321Ter
XM_017003117.1:c.3810C>A XP_016858606.1:p.Tyr1270Ter
XR_002958896.1:n.4005C>A
NM_133259.4:c.3963C>A MANE Select NP_573566.2:p.Tyr1321Ter