Canonical Allele Identifier: CA396268111
Gene: LRRC36 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67375302C>A , CM000678.2:g.67375302C>A GRCh38
NC_000016.9:g.67409205C>A , CM000678.1:g.67409205C>A GRCh37
NC_000016.8:g.65966706C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329956.11:c.1550C>A MANE Select ENSP00000329943.6:p.Pro517His
ENST00000329956.10:c.1550C>A ENSP00000329943.6:p.Pro517His
ENST00000435835.3:c.1132-3287C>A ENSP00000411122.3:n.1132-3287C>A
ENST00000563189.5:c.1187C>A ENSP00000455103.1:p.Pro396His
ENST00000565019.6:c.1072-13C>A
ENST00000567723.5:c.*876C>A ENSP00000455799.1:n.*876C>A
ENST00000567823.5:c.*45C>A ENSP00000456164.1:n.*45C>A
ENST00000568010.5:c.*290C>A ENSP00000455018.1:n.*290C>A
NM_001161575.1:c.1187C>A NP_001155047.1:p.Pro396His
NM_018296.5:c.1550C>A NP_060766.5:p.Pro517His
XM_005256025.2:c.1550C>A XP_005256082.1:p.Pro517His
XM_005256026.2:c.1109C>A XP_005256083.1:p.Pro370His
XM_005256027.2:c.1550C>A XP_005256084.1:p.Pro517His
XM_005256028.1:c.1046C>A XP_005256085.1:p.Pro349His
XM_011523199.1:c.1550C>A XP_011521501.1:p.Pro517His
XM_011523200.1:c.1550C>A XP_011521502.1:p.Pro517His
XM_011523201.1:c.1046C>A XP_011521503.1:p.Pro349His
XM_011523202.1:c.1043C>A XP_011521504.1:p.Pro348His
XM_011523203.1:c.932C>A XP_011521505.1:p.Pro311His
XM_011523204.1:c.824C>A XP_011521506.1:p.Pro275His
XM_011523205.1:c.824C>A XP_011521507.1:p.Pro275His
XR_243416.2:n.1569C>A
XR_429723.1:n.1558C>A
XM_011523202.2:c.1043C>A XP_011521504.1:p.Pro348His
XM_017023400.2:c.1550C>A XP_016878889.1:p.Pro517His
XM_017023401.1:c.799C>A XP_016878890.1:p.Pro267Thr
XM_017023402.1:c.622C>A XP_016878891.1:p.Pro208Thr
XM_024450338.1:c.824C>A XP_024306106.1:p.Pro275His
NM_018296.6:c.1550C>A MANE Select NP_060766.5:p.Pro517His
NM_001161575.2:c.1187C>A NP_001155047.1:p.Pro396His