Canonical Allele Identifier: CA495961955
Gene: LRRC36 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67409161T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67375258T>C , CM000678.2:g.67375258T>C GRCh38
NC_000016.9:g.67409161T>C , CM000678.1:g.67409161T>C GRCh37
NC_000016.8:g.65966662T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329956.11:c.1506T>C MANE Select ENSP00000329943.6:p.Ser502=
ENST00000329956.10:c.1506T>C ENSP00000329943.6:p.Ser502=
ENST00000435835.3:c.1132-3331T>C ENSP00000411122.3:n.1132-3331T>C
ENST00000563189.5:c.1143T>C ENSP00000455103.1:p.Ser381=
ENST00000565019.6:c.1072-57T>C
ENST00000567723.5:c.*832T>C ENSP00000455799.1:n.*832T>C
ENST00000567823.5:c.*1T>C ENSP00000456164.1:n.*1T>C
ENST00000568010.5:c.*246T>C ENSP00000455018.1:n.*246T>C
NM_001161575.1:c.1143T>C NP_001155047.1:p.Ser381=
NM_018296.5:c.1506T>C NP_060766.5:p.Ser502=
XM_005256025.2:c.1506T>C XP_005256082.1:p.Ser502=
XM_005256026.2:c.1065T>C XP_005256083.1:p.Ser355=
XM_005256027.2:c.1506T>C XP_005256084.1:p.Ser502=
XM_005256028.1:c.1002T>C XP_005256085.1:p.Ser334=
XM_011523199.1:c.1506T>C XP_011521501.1:p.Ser502=
XM_011523200.1:c.1506T>C XP_011521502.1:p.Ser502=
XM_011523201.1:c.1002T>C XP_011521503.1:p.Ser334=
XM_011523202.1:c.999T>C XP_011521504.1:p.Ser333=
XM_011523203.1:c.888T>C XP_011521505.1:p.Ser296=
XM_011523204.1:c.780T>C XP_011521506.1:p.Ser260=
XM_011523205.1:c.780T>C XP_011521507.1:p.Ser260=
XR_243416.2:n.1525T>C
XR_429723.1:n.1514T>C
XM_011523202.2:c.999T>C XP_011521504.1:p.Ser333=
XM_017023400.2:c.1506T>C XP_016878889.1:p.Ser502=
XM_017023401.1:c.755T>C XP_016878890.1:p.Val252Ala
XM_017023402.1:c.578T>C XP_016878891.1:p.Val193Ala
XM_024450338.1:c.780T>C XP_024306106.1:p.Ser260=
NM_018296.6:c.1506T>C MANE Select NP_060766.5:p.Ser502=
NM_001161575.2:c.1143T>C NP_001155047.1:p.Ser381=