Canonical Allele Identifier: CA439133602
Gene: TLR1 HGNC NCBI

Linked Data

gnomAD v4: 4-38798103-A-G
MyVariant Identifiers: chr4:g.38799724A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.38798103A>G , CM000666.2:g.38798103A>G GRCh38
NC_000004.11:g.38799724A>G , CM000666.1:g.38799724A>G GRCh37
NC_000004.10:g.38476119A>G NCBI36
NG_016228.1:g.11689T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308979.7:c.729T>C MANE Select ENSP00000354932.2:p.Asn243=
ENST00000308979.6:c.729T>C ENSP00000354932.2:p.Asn243=
ENST00000502213.6:c.729T>C ENSP00000421259.1:p.Asn243=
ENST00000505744.5:n.235+2754T>C
NM_003263.3:c.729T>C NP_003254.2:p.Asn243=
XM_005262662.3:c.729T>C XP_005262719.1:p.Asn243=
XM_006714028.2:c.729T>C XP_006714091.1:p.Asn243=
XM_011513742.1:c.729T>C XP_011512044.1:p.Asn243=
XM_011513743.1:c.729T>C XP_011512045.1:p.Asn243=
XM_011513744.1:c.729T>C XP_011512046.1:p.Asn243=
XM_011513745.1:c.729T>C XP_011512047.1:p.Asn243=
XR_925162.1:n.1003T>C
XR_925163.1:n.1003T>C
XR_925165.1:n.1003T>C
XM_005262662.5:c.729T>C XP_005262719.1:p.Asn243=
XM_011513742.3:c.729T>C XP_011512044.1:p.Asn243=
XM_011513745.3:c.729T>C XP_011512047.1:p.Asn243=
XM_017008571.2:c.729T>C XP_016864060.1:p.Asn243=
XM_017008572.2:c.729T>C XP_016864061.1:p.Asn243=
XM_024454196.1:c.729T>C XP_024309964.1:p.Asn243=
XM_024454197.1:c.729T>C XP_024309965.1:p.Asn243=
XM_024454198.1:c.729T>C XP_024309966.1:p.Asn243=
XM_024454199.1:c.205+2754T>C XP_024309967.1:n.205+2754T>C
XR_925163.2:n.1003T>C
XR_925165.2:n.1003T>C
NM_003263.4:c.729T>C MANE Select NP_003254.2:p.Asn243=