Canonical Allele Identifier: CA396267817
Gene: LRRC36 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67375259G>C , CM000678.2:g.67375259G>C GRCh38
NC_000016.9:g.67409162G>C , CM000678.1:g.67409162G>C GRCh37
NC_000016.8:g.65966663G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329956.11:c.1507G>C MANE Select ENSP00000329943.6:p.Asp503His
ENST00000329956.10:c.1507G>C ENSP00000329943.6:p.Asp503His
ENST00000435835.3:c.1132-3330G>C ENSP00000411122.3:n.1132-3330G>C
ENST00000563189.5:c.1144G>C ENSP00000455103.1:p.Asp382His
ENST00000565019.6:c.1072-56G>C
ENST00000567723.5:c.*833G>C ENSP00000455799.1:n.*833G>C
ENST00000567823.5:c.*2G>C ENSP00000456164.1:n.*2G>C
ENST00000568010.5:c.*247G>C ENSP00000455018.1:n.*247G>C
NM_001161575.1:c.1144G>C NP_001155047.1:p.Asp382His
NM_018296.5:c.1507G>C NP_060766.5:p.Asp503His
XM_005256025.2:c.1507G>C XP_005256082.1:p.Asp503His
XM_005256026.2:c.1066G>C XP_005256083.1:p.Asp356His
XM_005256027.2:c.1507G>C XP_005256084.1:p.Asp503His
XM_005256028.1:c.1003G>C XP_005256085.1:p.Asp335His
XM_011523199.1:c.1507G>C XP_011521501.1:p.Asp503His
XM_011523200.1:c.1507G>C XP_011521502.1:p.Asp503His
XM_011523201.1:c.1003G>C XP_011521503.1:p.Asp335His
XM_011523202.1:c.1000G>C XP_011521504.1:p.Asp334His
XM_011523203.1:c.889G>C XP_011521505.1:p.Asp297His
XM_011523204.1:c.781G>C XP_011521506.1:p.Asp261His
XM_011523205.1:c.781G>C XP_011521507.1:p.Asp261His
XR_243416.2:n.1526G>C
XR_429723.1:n.1515G>C
XM_011523202.2:c.1000G>C XP_011521504.1:p.Asp334His
XM_017023400.2:c.1507G>C XP_016878889.1:p.Asp503His
XM_017023401.1:c.756G>C XP_016878890.1:p.Val252=
XM_017023402.1:c.579G>C XP_016878891.1:p.Val193=
XM_024450338.1:c.781G>C XP_024306106.1:p.Asp261His
NM_018296.6:c.1507G>C MANE Select NP_060766.5:p.Asp503His
NM_001161575.2:c.1144G>C NP_001155047.1:p.Asp382His