Canonical Allele Identifier: CA119553

Gene: TLR1

Linked Data

• ClinVar Variation Id: 8361
• ClinVar RCV Id: RCV000008866 ; RCV003974811
• dbSNP Id: rs4833095
• ExAC: 4:38799710 T / C
• gnomAD v2: 4-38799710-T-C
• gnomAD v3: 4-38798089-T-C
• gnomAD v4: 4-38798089-T-C
• MyVariant Identifiers: chr4:g.38799710T>C (hg19) ; chr4:g.38798089T>C (hg38)
• PubMed: PMID:17475868 ; PMID:19456232

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38798089T>C , CM000666.2:g.38798089T>C	GRCh38
NC_000004.11:g.38799710T>C , CM000666.1:g.38799710T>C	GRCh37
NC_000004.10:g.38476105T>C	NCBI36
NG_016228.1:g.11703A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000308979.7:c.743A>G MANE Select	ENSP00000354932.2:p.Asn248Ser
ENST00000308979.6:c.743A>G	ENSP00000354932.2:p.Asn248Ser
ENST00000502213.6:c.743A>G	ENSP00000421259.1:p.Asn248Ser
ENST00000505744.5:n.235+2768A>G
NM_003263.3:c.743A>G	NP_003254.2:p.Asn248Ser
XM_005262662.3:c.743A>G	XP_005262719.1:p.Asn248Ser
XM_006714028.2:c.743A>G	XP_006714091.1:p.Asn248Ser
XM_011513742.1:c.743A>G	XP_011512044.1:p.Asn248Ser
XM_011513743.1:c.743A>G	XP_011512045.1:p.Asn248Ser
XM_011513744.1:c.743A>G	XP_011512046.1:p.Asn248Ser
XM_011513745.1:c.743A>G	XP_011512047.1:p.Asn248Ser
XR_925162.1:n.1017A>G
XR_925163.1:n.1017A>G
XR_925165.1:n.1017A>G
XM_005262662.5:c.743A>G	XP_005262719.1:p.Asn248Ser
XM_011513742.3:c.743A>G	XP_011512044.1:p.Asn248Ser
XM_011513745.3:c.743A>G	XP_011512047.1:p.Asn248Ser
XM_017008571.2:c.743A>G	XP_016864060.1:p.Asn248Ser
XM_017008572.2:c.743A>G	XP_016864061.1:p.Asn248Ser
XM_024454196.1:c.743A>G	XP_024309964.1:p.Asn248Ser
XM_024454197.1:c.743A>G	XP_024309965.1:p.Asn248Ser
XM_024454198.1:c.743A>G	XP_024309966.1:p.Asn248Ser
XM_024454199.1:c.205+2768A>G	XP_024309967.1:n.205+2768A>G
XR_925163.2:n.1017A>G
XR_925165.2:n.1017A>G
NM_003263.4:c.743A>G MANE Select	NP_003254.2:p.Asn248Ser