Canonical Allele Identifier: CA2889818

Linked Data

dbSNP Id: rs5743815
gnomAD v2: 4-38829815-A-G
gnomAD v3: 4-38828194-A-G
gnomAD v4: 4-38828194-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.38828194A>G , CM000666.2:g.38828194A>G GRCh38
NC_000004.11:g.38829815A>G , CM000666.1:g.38829815A>G GRCh37
NC_000004.10:g.38506210A>G NCBI36
NG_028087.1:g.33624T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000381950.2:c.1280T>C (TLR6) ENSP00000371376.1:p.Val427Ala
ENST00000508254.6:c.1280T>C (TLR6) MANE Select ENSP00000424718.2:p.Val427Ala
ENST00000381950.1:c.1280T>C (TLR6) ENSP00000371376.1:p.Val427Ala
ENST00000436693.6:c.1280T>C (TLR6) ENSP00000389600.2:p.Val427Ala
ENST00000506146.5:c.-352-23001T>C (TLR1) ENSP00000423725.1:n.-352-23001T>C
ENST00000610323.2:c.1146+134T>C (TLR6) ENSP00000480266.1:n.1146+134T>C
NM_006068.4:c.1280T>C (TLR6) NP_006059.2:p.Val427Ala
XM_005262637.3:c.1280T>C (TLR6) XP_005262694.1:p.Val427Ala
XM_011513612.1:c.1280T>C (TLR6) XP_011511914.1:p.Val427Ala
XM_011513613.1:c.1280T>C (TLR6) XP_011511915.1:p.Val427Ala
XM_011513614.1:c.1280T>C (TLR6) XP_011511916.1:p.Val427Ala
XM_005262637.5:c.1280T>C (TLR6) XP_005262694.1:p.Val427Ala
XM_011513613.3:c.1280T>C (TLR6) XP_011511915.1:p.Val427Ala
XM_011513614.3:c.1280T>C (TLR6) XP_011511916.1:p.Val427Ala
XM_024453873.1:c.1280T>C (TLR6) XP_024309641.1:p.Val427Ala
NM_006068.5:c.1280T>C (TLR6) MANE Select NP_006059.2:p.Val427Ala
NM_001394553.1:c.1280T>C (TLR6) NP_001381482.1:p.Val427Ala