Canonical Allele Identifier: CA495961965
Gene: LRRC36 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67409173T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67375270T>C , CM000678.2:g.67375270T>C GRCh38
NC_000016.9:g.67409173T>C , CM000678.1:g.67409173T>C GRCh37
NC_000016.8:g.65966674T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329956.11:c.1518T>C MANE Select ENSP00000329943.6:p.Ser506=
ENST00000329956.10:c.1518T>C ENSP00000329943.6:p.Ser506=
ENST00000435835.3:c.1132-3319T>C ENSP00000411122.3:n.1132-3319T>C
ENST00000563189.5:c.1155T>C ENSP00000455103.1:p.Ser385=
ENST00000565019.6:c.1072-45T>C
ENST00000567723.5:c.*844T>C ENSP00000455799.1:n.*844T>C
ENST00000567823.5:c.*13T>C ENSP00000456164.1:n.*13T>C
ENST00000568010.5:c.*258T>C ENSP00000455018.1:n.*258T>C
NM_001161575.1:c.1155T>C NP_001155047.1:p.Ser385=
NM_018296.5:c.1518T>C NP_060766.5:p.Ser506=
XM_005256025.2:c.1518T>C XP_005256082.1:p.Ser506=
XM_005256026.2:c.1077T>C XP_005256083.1:p.Ser359=
XM_005256027.2:c.1518T>C XP_005256084.1:p.Ser506=
XM_005256028.1:c.1014T>C XP_005256085.1:p.Ser338=
XM_011523199.1:c.1518T>C XP_011521501.1:p.Ser506=
XM_011523200.1:c.1518T>C XP_011521502.1:p.Ser506=
XM_011523201.1:c.1014T>C XP_011521503.1:p.Ser338=
XM_011523202.1:c.1011T>C XP_011521504.1:p.Ser337=
XM_011523203.1:c.900T>C XP_011521505.1:p.Ser300=
XM_011523204.1:c.792T>C XP_011521506.1:p.Ser264=
XM_011523205.1:c.792T>C XP_011521507.1:p.Ser264=
XR_243416.2:n.1537T>C
XR_429723.1:n.1526T>C
XM_011523202.2:c.1011T>C XP_011521504.1:p.Ser337=
XM_017023400.2:c.1518T>C XP_016878889.1:p.Ser506=
XM_017023401.1:c.767T>C XP_016878890.1:p.Val256Ala
XM_017023402.1:c.590T>C XP_016878891.1:p.Val197Ala
XM_024450338.1:c.792T>C XP_024306106.1:p.Ser264=
NM_018296.6:c.1518T>C MANE Select NP_060766.5:p.Ser506=
NM_001161575.2:c.1155T>C NP_001155047.1:p.Ser385=