Canonical Allele Identifier: CA210483
Gene: LRPPRC HGNC NCBI

Linked Data

ClinVar Variation Id: 3110
dbSNP Id: rs119466000
gnomAD v2: 2-44201383-G-A
gnomAD v3: 2-43974244-G-A
gnomAD v4: 2-43974244-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43974244G>A , CM000664.2:g.43974244G>A GRCh38
NC_000002.11:g.44201383G>A , CM000664.1:g.44201383G>A GRCh37
NC_000002.10:g.44054887G>A NCBI36
NG_008247.1:g.26762C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000409659.6:c.1061C>T ENSP00000386562.2:p.Ala354Val
ENST00000409946.6:c.1061C>T ENSP00000386234.1:p.Ala354Val
ENST00000447246.2:c.1061C>T ENSP00000403637.2:p.Ala354Val
ENST00000681959.1:n.675C>T
ENST00000681961.1:n.1081C>T
ENST00000682104.1:c.935C>T ENSP00000507716.1:p.Ala312Val
ENST00000682303.1:c.*933C>T ENSP00000508325.1:n.*933C>T
ENST00000682308.1:c.1061C>T ENSP00000507056.1:p.Ala354Val
ENST00000682480.1:c.1061C>T ENSP00000508344.1:p.Ala354Val
ENST00000682546.1:c.1061C>T ENSP00000508188.1:p.Ala354Val
ENST00000682585.1:c.1061C>T ENSP00000506885.1:p.Ala354Val
ENST00000682595.1:n.1394C>T
ENST00000682779.1:c.1052C>T ENSP00000507947.1:p.Ala351Val
ENST00000682885.1:c.1061C>T ENSP00000508036.1:p.Ala354Val
ENST00000682999.1:n.1429C>T
ENST00000683072.1:n.1394C>T
ENST00000683082.1:n.1079C>T
ENST00000683125.1:c.1061C>T ENSP00000507939.1:p.Ala354Val
ENST00000683213.1:c.1064C>T ENSP00000507751.1:p.Ala355Val
ENST00000683220.1:c.1061C>T ENSP00000507151.1:p.Ala354Val
ENST00000683329.1:n.1864C>T
ENST00000683346.1:c.*936C>T ENSP00000507458.1:n.*936C>T
ENST00000683459.1:n.1399C>T
ENST00000683590.1:c.1061C>T ENSP00000506820.1:p.Ala354Val
ENST00000683623.1:c.1061C>T ENSP00000507702.1:p.Ala354Val
ENST00000683796.1:c.*933C>T ENSP00000508221.1:n.*933C>T
ENST00000683802.1:n.897C>T
ENST00000683833.1:c.1052C>T ENSP00000506852.1:p.Ala351Val
ENST00000683934.1:c.715C>T
ENST00000683989.1:c.1061C>T ENSP00000507510.1:p.Ala354Val
ENST00000683994.1:c.1061C>T ENSP00000507181.1:p.Ala354Val
ENST00000684290.1:c.1061C>T ENSP00000507243.1:p.Ala354Val
ENST00000684306.1:c.*974C>T ENSP00000508384.1:n.*974C>T
ENST00000684341.1:n.1081C>T
ENST00000684383.1:c.*699C>T ENSP00000506863.1:n.*699C>T
ENST00000684482.1:c.715C>T
ENST00000684619.1:c.*933C>T ENSP00000508088.1:n.*933C>T
ENST00000260665.12:c.1061C>T MANE Select ENSP00000260665.7:p.Ala354Val
ENST00000260665.11:c.1061C>T ENSP00000260665.7:p.Ala354Val
ENST00000409659.5:c.1061C>T ENSP00000386562.1:p.Ala354Val
ENST00000409946.5:c.1061C>T ENSP00000386234.1:p.Ala354Val
ENST00000447246.1:c.983C>T ENSP00000403637.1:p.Ala328Val
NM_133259.3:c.1061C>T NP_573566.2:p.Ala354Val
XM_006711915.2:c.983C>T XP_006711978.1:p.Ala328Val
XM_006711916.2:c.1061C>T XP_006711979.1:p.Ala354Val
XM_011532473.1:c.1061C>T XP_011530775.1:p.Ala354Val
XM_011532474.1:c.1061C>T XP_011530776.1:p.Ala354Val
XM_006711916.3:c.1061C>T XP_006711979.1:p.Ala354Val
XM_017003117.1:c.983C>T XP_016858606.1:p.Ala328Val
XR_002958896.1:n.1103C>T
NM_133259.4:c.1061C>T MANE Select NP_573566.2:p.Ala354Val