Canonical Allele Identifier: CA230611

Gene: TLR6 TLR1

Linked Data

• ClinVar Variation Id: 111274
• ClinVar RCV Id: RCV000097476
• dbSNP Id: rs137853181
• MyVariant Identifiers: chr4:g.38830248T>C (hg19) ; chr4:g.38828627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38828627T>C , CM000666.2:g.38828627T>C	GRCh38
NC_000004.11:g.38830248T>C , CM000666.1:g.38830248T>C	GRCh37
NC_000004.10:g.38506643T>C	NCBI36
NG_028087.1:g.33191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381950.2:c.847A>G (TLR6)	ENSP00000371376.1:p.Ile283Val
ENST00000508254.6:c.847A>G (TLR6) MANE Select	ENSP00000424718.2:p.Ile283Val
ENST00000381950.1:c.847A>G (TLR6)	ENSP00000371376.1:p.Ile283Val
ENST00000436693.6:c.847A>G (TLR6)	ENSP00000389600.2:p.Ile283Val
ENST00000506146.5:c.-352-23434A>G (TLR1)	ENSP00000423725.1:n.-352-23434A>G
ENST00000610323.2:c.847A>G (TLR6)	ENSP00000480266.1:p.Ile283Val
NM_006068.4:c.847A>G (TLR6)	NP_006059.2:p.Ile283Val
XM_005262637.3:c.847A>G (TLR6)	XP_005262694.1:p.Ile283Val
XM_011513612.1:c.847A>G (TLR6)	XP_011511914.1:p.Ile283Val
XM_011513613.1:c.847A>G (TLR6)	XP_011511915.1:p.Ile283Val
XM_011513614.1:c.847A>G (TLR6)	XP_011511916.1:p.Ile283Val
XM_005262637.5:c.847A>G (TLR6)	XP_005262694.1:p.Ile283Val
XM_011513613.3:c.847A>G (TLR6)	XP_011511915.1:p.Ile283Val
XM_011513614.3:c.847A>G (TLR6)	XP_011511916.1:p.Ile283Val
XM_024453873.1:c.847A>G (TLR6)	XP_024309641.1:p.Ile283Val
NM_006068.5:c.847A>G (TLR6) MANE Select	NP_006059.2:p.Ile283Val
NM_001394553.1:c.847A>G (TLR6)	NP_001381482.1:p.Ile283Val