Canonical Allele Identifier: CA8109721

Gene: LRRC36

Linked Data

• ClinVar Variation Id: 2623468
• ClinVar RCV Id: RCV004364178
• dbSNP Id: rs200059387
• ExAC: 16:67409157 C / T
• gnomAD v2: 16-67409157-C-T
• gnomAD v3: 16-67375254-C-T
• gnomAD v4: 16-67375254-C-T
• MyVariant Identifiers: chr16:g.67409157C>T (hg19) ; chr16:g.67375254C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375254C>T , CM000678.2:g.67375254C>T	GRCh38
NC_000016.9:g.67409157C>T , CM000678.1:g.67409157C>T	GRCh37
NC_000016.8:g.65966658C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1502C>T MANE Select	ENSP00000329943.6:p.Ser501Phe
ENST00000329956.10:c.1502C>T	ENSP00000329943.6:p.Ser501Phe
ENST00000435835.3:c.1132-3335C>T	ENSP00000411122.3:n.1132-3335C>T
ENST00000563189.5:c.1139C>T	ENSP00000455103.1:p.Ser380Phe
ENST00000565019.6:c.1072-61C>T
ENST00000567723.5:c.*828C>T	ENSP00000455799.1:n.*828C>T
ENST00000567823.5:c.222C>T	ENSP00000456164.1:p.Leu74=
ENST00000568010.5:c.*246-4C>T	ENSP00000455018.1:n.*246-4C>T
NM_001161575.1:c.1139C>T	NP_001155047.1:p.Ser380Phe
NM_018296.5:c.1502C>T	NP_060766.5:p.Ser501Phe
XM_005256025.2:c.1502C>T	XP_005256082.1:p.Ser501Phe
XM_005256026.2:c.1061C>T	XP_005256083.1:p.Ser354Phe
XM_005256027.2:c.1502C>T	XP_005256084.1:p.Ser501Phe
XM_005256028.1:c.998C>T	XP_005256085.1:p.Ser333Phe
XM_011523199.1:c.1502C>T	XP_011521501.1:p.Ser501Phe
XM_011523200.1:c.1502C>T	XP_011521502.1:p.Ser501Phe
XM_011523201.1:c.998C>T	XP_011521503.1:p.Ser333Phe
XM_011523202.1:c.995C>T	XP_011521504.1:p.Ser332Phe
XM_011523203.1:c.884C>T	XP_011521505.1:p.Ser295Phe
XM_011523204.1:c.776C>T	XP_011521506.1:p.Ser259Phe
XM_011523205.1:c.776C>T	XP_011521507.1:p.Ser259Phe
XR_243416.2:n.1521C>T
XR_429723.1:n.1514-4C>T
XM_011523202.2:c.995C>T	XP_011521504.1:p.Ser332Phe
XM_017023400.2:c.1502C>T	XP_016878889.1:p.Ser501Phe
XM_017023401.1:c.755-4C>T	XP_016878890.1:n.755-4C>T
XM_017023402.1:c.578-4C>T	XP_016878891.1:n.578-4C>T
XM_024450338.1:c.776C>T	XP_024306106.1:p.Ser259Phe
NM_018296.6:c.1502C>T MANE Select	NP_060766.5:p.Ser501Phe
NM_001161575.2:c.1139C>T	NP_001155047.1:p.Ser380Phe