Canonical Allele Identifier: CA396270172

Gene: LRRC36

Linked Data

• gnomAD v4: 16-67375382-G-T
• MyVariant Identifiers: chr16:g.67409285G>T (hg19) ; chr16:g.67375382G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375382G>T , CM000678.2:g.67375382G>T	GRCh38
NC_000016.9:g.67409285G>T , CM000678.1:g.67409285G>T	GRCh37
NC_000016.8:g.65966786G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1630G>T MANE Select	ENSP00000329943.6:p.Gly544Cys
ENST00000329956.10:c.1630G>T	ENSP00000329943.6:p.Gly544Cys
ENST00000435835.3:c.1132-3207G>T	ENSP00000411122.3:n.1132-3207G>T
ENST00000563189.5:c.1267G>T	ENSP00000455103.1:p.Gly423Cys
ENST00000565019.6:c.1139G>T
ENST00000567723.5:c.*956G>T	ENSP00000455799.1:n.*956G>T
ENST00000567823.5:c.*125G>T	ENSP00000456164.1:n.*125G>T
ENST00000568010.5:c.*370G>T	ENSP00000455018.1:n.*370G>T
NM_001161575.1:c.1267G>T	NP_001155047.1:p.Gly423Cys
NM_018296.5:c.1630G>T	NP_060766.5:p.Gly544Cys
XM_005256025.2:c.1630G>T	XP_005256082.1:p.Gly544Cys
XM_005256026.2:c.1189G>T	XP_005256083.1:p.Gly397Cys
XM_005256027.2:c.1630G>T	XP_005256084.1:p.Gly544Cys
XM_005256028.1:c.1126G>T	XP_005256085.1:p.Gly376Cys
XM_011523199.1:c.1630G>T	XP_011521501.1:p.Gly544Cys
XM_011523200.1:c.1630G>T	XP_011521502.1:p.Gly544Cys
XM_011523201.1:c.1126G>T	XP_011521503.1:p.Gly376Cys
XM_011523202.1:c.1123G>T	XP_011521504.1:p.Gly375Cys
XM_011523203.1:c.1012G>T	XP_011521505.1:p.Gly338Cys
XM_011523204.1:c.904G>T	XP_011521506.1:p.Gly302Cys
XM_011523205.1:c.904G>T	XP_011521507.1:p.Gly302Cys
XR_243416.2:n.1649G>T
XR_429723.1:n.1638G>T
XM_011523202.2:c.1123G>T	XP_011521504.1:p.Gly375Cys
XM_017023400.2:c.1630G>T	XP_016878889.1:p.Gly544Cys
XM_017023401.1:c.879G>T	XP_016878890.1:p.Pro293=
XM_017023402.1:c.702G>T	XP_016878891.1:p.Pro234=
XM_024450338.1:c.904G>T	XP_024306106.1:p.Gly302Cys
NM_018296.6:c.1630G>T MANE Select	NP_060766.5:p.Gly544Cys
NM_001161575.2:c.1267G>T	NP_001155047.1:p.Gly423Cys