Canonical Allele Identifier: CA2889479

Gene: TLR1

Linked Data

• dbSNP Id: rs201490388
• ExAC: 4:38799612 C / T
• gnomAD v2: 4-38799612-C-T
• gnomAD v3: 4-38797991-C-T
• gnomAD v4: 4-38797991-C-T
• MyVariant Identifiers: chr4:g.38799612C>T (hg19) ; chr4:g.38797991C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38797991C>T , CM000666.2:g.38797991C>T	GRCh38
NC_000004.11:g.38799612C>T , CM000666.1:g.38799612C>T	GRCh37
NC_000004.10:g.38476007C>T	NCBI36
NG_016228.1:g.11801G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308979.7:c.841G>A MANE Select	ENSP00000354932.2:p.Val281Met
ENST00000308979.6:c.841G>A	ENSP00000354932.2:p.Val281Met
ENST00000502213.6:c.841G>A	ENSP00000421259.1:p.Val281Met
ENST00000505744.5:n.235+2866G>A
NM_003263.3:c.841G>A	NP_003254.2:p.Val281Met
XM_005262662.3:c.841G>A	XP_005262719.1:p.Val281Met
XM_006714028.2:c.841G>A	XP_006714091.1:p.Val281Met
XM_011513742.1:c.841G>A	XP_011512044.1:p.Val281Met
XM_011513743.1:c.841G>A	XP_011512045.1:p.Val281Met
XM_011513744.1:c.841G>A	XP_011512046.1:p.Val281Met
XM_011513745.1:c.841G>A	XP_011512047.1:p.Val281Met
XR_925162.1:n.1115G>A
XR_925163.1:n.1115G>A
XR_925165.1:n.1115G>A
XM_005262662.5:c.841G>A	XP_005262719.1:p.Val281Met
XM_011513742.3:c.841G>A	XP_011512044.1:p.Val281Met
XM_011513745.3:c.841G>A	XP_011512047.1:p.Val281Met
XM_017008571.2:c.841G>A	XP_016864060.1:p.Val281Met
XM_017008572.2:c.841G>A	XP_016864061.1:p.Val281Met
XM_024454196.1:c.841G>A	XP_024309964.1:p.Val281Met
XM_024454197.1:c.841G>A	XP_024309965.1:p.Val281Met
XM_024454198.1:c.841G>A	XP_024309966.1:p.Val281Met
XM_024454199.1:c.205+2866G>A	XP_024309967.1:n.205+2866G>A
XR_925163.2:n.1115G>A
XR_925165.2:n.1115G>A
NM_003263.4:c.841G>A MANE Select	NP_003254.2:p.Val281Met