Canonical Allele Identifier: CA8109724

Gene: LRRC36

Linked Data

• dbSNP Id: rs774390305
• ExAC: 16:67409178 A / C
• gnomAD v2: 16-67409178-A-C
• gnomAD v3: 16-67375275-A-C
• gnomAD v4: 16-67375275-A-C
• MyVariant Identifiers: chr16:g.67409178A>C (hg19) ; chr16:g.67375275A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375275A>C , CM000678.2:g.67375275A>C	GRCh38
NC_000016.9:g.67409178A>C , CM000678.1:g.67409178A>C	GRCh37
NC_000016.8:g.65966679A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1523A>C MANE Select	ENSP00000329943.6:p.His508Pro
ENST00000329956.10:c.1523A>C	ENSP00000329943.6:p.His508Pro
ENST00000435835.3:c.1132-3314A>C	ENSP00000411122.3:n.1132-3314A>C
ENST00000563189.5:c.1160A>C	ENSP00000455103.1:p.His387Pro
ENST00000565019.6:c.1072-40A>C
ENST00000567723.5:c.*849A>C	ENSP00000455799.1:n.*849A>C
ENST00000567823.5:c.*18A>C	ENSP00000456164.1:n.*18A>C
ENST00000568010.5:c.*263A>C	ENSP00000455018.1:n.*263A>C
NM_001161575.1:c.1160A>C	NP_001155047.1:p.His387Pro
NM_018296.5:c.1523A>C	NP_060766.5:p.His508Pro
XM_005256025.2:c.1523A>C	XP_005256082.1:p.His508Pro
XM_005256026.2:c.1082A>C	XP_005256083.1:p.His361Pro
XM_005256027.2:c.1523A>C	XP_005256084.1:p.His508Pro
XM_005256028.1:c.1019A>C	XP_005256085.1:p.His340Pro
XM_011523199.1:c.1523A>C	XP_011521501.1:p.His508Pro
XM_011523200.1:c.1523A>C	XP_011521502.1:p.His508Pro
XM_011523201.1:c.1019A>C	XP_011521503.1:p.His340Pro
XM_011523202.1:c.1016A>C	XP_011521504.1:p.His339Pro
XM_011523203.1:c.905A>C	XP_011521505.1:p.His302Pro
XM_011523204.1:c.797A>C	XP_011521506.1:p.His266Pro
XM_011523205.1:c.797A>C	XP_011521507.1:p.His266Pro
XR_243416.2:n.1542A>C
XR_429723.1:n.1531A>C
XM_011523202.2:c.1016A>C	XP_011521504.1:p.His339Pro
XM_017023400.2:c.1523A>C	XP_016878889.1:p.His508Pro
XM_017023401.1:c.772A>C	XP_016878890.1:p.Thr258Pro
XM_017023402.1:c.595A>C	XP_016878891.1:p.Thr199Pro
XM_024450338.1:c.797A>C	XP_024306106.1:p.His266Pro
NM_018296.6:c.1523A>C MANE Select	NP_060766.5:p.His508Pro
NM_001161575.2:c.1160A>C	NP_001155047.1:p.His387Pro