Canonical Allele Identifier: CA8109719

Gene: LRRC36

Linked Data

• dbSNP Id: rs746204676
• ExAC: 16:67409150 C / G
• gnomAD v2: 16-67409150-C-G
• MyVariant Identifiers: chr16:g.67409150C>G (hg19) ; chr16:g.67375247C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375247C>G , CM000678.2:g.67375247C>G	GRCh38
NC_000016.9:g.67409150C>G , CM000678.1:g.67409150C>G	GRCh37
NC_000016.8:g.65966651C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1495C>G MANE Select	ENSP00000329943.6:p.Pro499Ala
ENST00000329956.10:c.1495C>G	ENSP00000329943.6:p.Pro499Ala
ENST00000435835.3:c.1132-3342C>G	ENSP00000411122.3:n.1132-3342C>G
ENST00000563189.5:c.1132C>G	ENSP00000455103.1:p.Pro378Ala
ENST00000565019.6:c.1072-68C>G
ENST00000567723.5:c.*821C>G	ENSP00000455799.1:n.*821C>G
ENST00000567823.5:c.215C>G	ENSP00000456164.1:p.Ala72Gly
ENST00000568010.5:c.*246-11C>G	ENSP00000455018.1:n.*246-11C>G
NM_001161575.1:c.1132C>G	NP_001155047.1:p.Pro378Ala
NM_018296.5:c.1495C>G	NP_060766.5:p.Pro499Ala
XM_005256025.2:c.1495C>G	XP_005256082.1:p.Pro499Ala
XM_005256026.2:c.1054C>G	XP_005256083.1:p.Pro352Ala
XM_005256027.2:c.1495C>G	XP_005256084.1:p.Pro499Ala
XM_005256028.1:c.991C>G	XP_005256085.1:p.Pro331Ala
XM_011523199.1:c.1495C>G	XP_011521501.1:p.Pro499Ala
XM_011523200.1:c.1495C>G	XP_011521502.1:p.Pro499Ala
XM_011523201.1:c.991C>G	XP_011521503.1:p.Pro331Ala
XM_011523202.1:c.988C>G	XP_011521504.1:p.Pro330Ala
XM_011523203.1:c.877C>G	XP_011521505.1:p.Pro293Ala
XM_011523204.1:c.769C>G	XP_011521506.1:p.Pro257Ala
XM_011523205.1:c.769C>G	XP_011521507.1:p.Pro257Ala
XR_243416.2:n.1514C>G
XR_429723.1:n.1514-11C>G
XM_011523202.2:c.988C>G	XP_011521504.1:p.Pro330Ala
XM_017023400.2:c.1495C>G	XP_016878889.1:p.Pro499Ala
XM_017023401.1:c.755-11C>G	XP_016878890.1:n.755-11C>G
XM_017023402.1:c.578-11C>G	XP_016878891.1:n.578-11C>G
XM_024450338.1:c.769C>G	XP_024306106.1:p.Pro257Ala
NM_018296.6:c.1495C>G MANE Select	NP_060766.5:p.Pro499Ala
NM_001161575.2:c.1132C>G	NP_001155047.1:p.Pro378Ala