Canonical Allele Identifier: CA2889481
Gene: TLR1 HGNC NCBI

Linked Data

dbSNP Id: rs753200846
gnomAD v2: 4-38799615-T-C
gnomAD v4: 4-38797994-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.38797994T>C , CM000666.2:g.38797994T>C GRCh38
NC_000004.11:g.38799615T>C , CM000666.1:g.38799615T>C GRCh37
NC_000004.10:g.38476010T>C NCBI36
NG_016228.1:g.11798A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000308979.7:c.838A>G MANE Select ENSP00000354932.2:p.Asn280Asp
ENST00000308979.6:c.838A>G ENSP00000354932.2:p.Asn280Asp
ENST00000502213.6:c.838A>G ENSP00000421259.1:p.Asn280Asp
ENST00000505744.5:n.235+2863A>G
NM_003263.3:c.838A>G NP_003254.2:p.Asn280Asp
XM_005262662.3:c.838A>G XP_005262719.1:p.Asn280Asp
XM_006714028.2:c.838A>G XP_006714091.1:p.Asn280Asp
XM_011513742.1:c.838A>G XP_011512044.1:p.Asn280Asp
XM_011513743.1:c.838A>G XP_011512045.1:p.Asn280Asp
XM_011513744.1:c.838A>G XP_011512046.1:p.Asn280Asp
XM_011513745.1:c.838A>G XP_011512047.1:p.Asn280Asp
XR_925162.1:n.1112A>G
XR_925163.1:n.1112A>G
XR_925165.1:n.1112A>G
XM_005262662.5:c.838A>G XP_005262719.1:p.Asn280Asp
XM_011513742.3:c.838A>G XP_011512044.1:p.Asn280Asp
XM_011513745.3:c.838A>G XP_011512047.1:p.Asn280Asp
XM_017008571.2:c.838A>G XP_016864060.1:p.Asn280Asp
XM_017008572.2:c.838A>G XP_016864061.1:p.Asn280Asp
XM_024454196.1:c.838A>G XP_024309964.1:p.Asn280Asp
XM_024454197.1:c.838A>G XP_024309965.1:p.Asn280Asp
XM_024454198.1:c.838A>G XP_024309966.1:p.Asn280Asp
XM_024454199.1:c.205+2863A>G XP_024309967.1:n.205+2863A>G
XR_925163.2:n.1112A>G
XR_925165.2:n.1112A>G
NM_003263.4:c.838A>G MANE Select NP_003254.2:p.Asn280Asp