Canonical Allele Identifier: CA2889497

Gene: TLR1

Linked Data

• dbSNP Id: rs753554650
• ExAC: 4:38799735 G / A
• gnomAD v2: 4-38799735-G-A
• gnomAD v4: 4-38798114-G-A
• MyVariant Identifiers: chr4:g.38799735G>A (hg19) ; chr4:g.38798114G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.38798114G>A , CM000666.2:g.38798114G>A	GRCh38
NC_000004.11:g.38799735G>A , CM000666.1:g.38799735G>A	GRCh37
NC_000004.10:g.38476130G>A	NCBI36
NG_016228.1:g.11678C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308979.7:c.718C>T MANE Select	ENSP00000354932.2:p.Leu240Phe
ENST00000308979.6:c.718C>T	ENSP00000354932.2:p.Leu240Phe
ENST00000502213.6:c.718C>T	ENSP00000421259.1:p.Leu240Phe
ENST00000505744.5:n.235+2743C>T
NM_003263.3:c.718C>T	NP_003254.2:p.Leu240Phe
XM_005262662.3:c.718C>T	XP_005262719.1:p.Leu240Phe
XM_006714028.2:c.718C>T	XP_006714091.1:p.Leu240Phe
XM_011513742.1:c.718C>T	XP_011512044.1:p.Leu240Phe
XM_011513743.1:c.718C>T	XP_011512045.1:p.Leu240Phe
XM_011513744.1:c.718C>T	XP_011512046.1:p.Leu240Phe
XM_011513745.1:c.718C>T	XP_011512047.1:p.Leu240Phe
XR_925162.1:n.992C>T
XR_925163.1:n.992C>T
XR_925165.1:n.992C>T
XM_005262662.5:c.718C>T	XP_005262719.1:p.Leu240Phe
XM_011513742.3:c.718C>T	XP_011512044.1:p.Leu240Phe
XM_011513745.3:c.718C>T	XP_011512047.1:p.Leu240Phe
XM_017008571.2:c.718C>T	XP_016864060.1:p.Leu240Phe
XM_017008572.2:c.718C>T	XP_016864061.1:p.Leu240Phe
XM_024454196.1:c.718C>T	XP_024309964.1:p.Leu240Phe
XM_024454197.1:c.718C>T	XP_024309965.1:p.Leu240Phe
XM_024454198.1:c.718C>T	XP_024309966.1:p.Leu240Phe
XM_024454199.1:c.205+2743C>T	XP_024309967.1:n.205+2743C>T
XR_925163.2:n.992C>T
XR_925165.2:n.992C>T
NM_003263.4:c.718C>T MANE Select	NP_003254.2:p.Leu240Phe