Canonical Allele Identifier: CA396268012

Gene: LRRC36

Linked Data

• gnomAD v4: 16-67375283-G-T
• MyVariant Identifiers: chr16:g.67409186G>T (hg19) ; chr16:g.67375283G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67375283G>T , CM000678.2:g.67375283G>T	GRCh38
NC_000016.9:g.67409186G>T , CM000678.1:g.67409186G>T	GRCh37
NC_000016.8:g.65966687G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000329956.11:c.1531G>T MANE Select	ENSP00000329943.6:p.Ala511Ser
ENST00000329956.10:c.1531G>T	ENSP00000329943.6:p.Ala511Ser
ENST00000435835.3:c.1132-3306G>T	ENSP00000411122.3:n.1132-3306G>T
ENST00000563189.5:c.1168G>T	ENSP00000455103.1:p.Ala390Ser
ENST00000565019.6:c.1072-32G>T
ENST00000567723.5:c.*857G>T	ENSP00000455799.1:n.*857G>T
ENST00000567823.5:c.*26G>T	ENSP00000456164.1:n.*26G>T
ENST00000568010.5:c.*271G>T	ENSP00000455018.1:n.*271G>T
NM_001161575.1:c.1168G>T	NP_001155047.1:p.Ala390Ser
NM_018296.5:c.1531G>T	NP_060766.5:p.Ala511Ser
XM_005256025.2:c.1531G>T	XP_005256082.1:p.Ala511Ser
XM_005256026.2:c.1090G>T	XP_005256083.1:p.Ala364Ser
XM_005256027.2:c.1531G>T	XP_005256084.1:p.Ala511Ser
XM_005256028.1:c.1027G>T	XP_005256085.1:p.Ala343Ser
XM_011523199.1:c.1531G>T	XP_011521501.1:p.Ala511Ser
XM_011523200.1:c.1531G>T	XP_011521502.1:p.Ala511Ser
XM_011523201.1:c.1027G>T	XP_011521503.1:p.Ala343Ser
XM_011523202.1:c.1024G>T	XP_011521504.1:p.Ala342Ser
XM_011523203.1:c.913G>T	XP_011521505.1:p.Ala305Ser
XM_011523204.1:c.805G>T	XP_011521506.1:p.Ala269Ser
XM_011523205.1:c.805G>T	XP_011521507.1:p.Ala269Ser
XR_243416.2:n.1550G>T
XR_429723.1:n.1539G>T
XM_011523202.2:c.1024G>T	XP_011521504.1:p.Ala342Ser
XM_017023400.2:c.1531G>T	XP_016878889.1:p.Ala511Ser
XM_017023401.1:c.780G>T	XP_016878890.1:p.Trp260Cys
XM_017023402.1:c.603G>T	XP_016878891.1:p.Trp201Cys
XM_024450338.1:c.805G>T	XP_024306106.1:p.Ala269Ser
NM_018296.6:c.1531G>T MANE Select	NP_060766.5:p.Ala511Ser
NM_001161575.2:c.1168G>T	NP_001155047.1:p.Ala390Ser