Canonical Allele Identifier: CA383233890

Gene: TIRAP

Linked Data

• gnomAD v4: 11-126292958-C-A
• MyVariant Identifiers: chr11:g.126162853C>A (hg19) ; chr11:g.126292958C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126292958C>A , CM000673.2:g.126292958C>A	GRCh38
NC_000011.9:g.126162853C>A , CM000673.1:g.126162853C>A	GRCh37
NC_000011.8:g.125668063C>A	NCBI36
NG_011523.1:g.14872C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000479770.2:c.549C>A	ENSP00000436967.1:p.Ser183Arg
ENST00000700488.1:c.549C>A	ENSP00000515016.1:p.Ser183Arg
ENST00000700489.1:c.549C>A	ENSP00000515017.1:p.Ser183Arg
ENST00000700490.1:c.549C>A	ENSP00000515018.1:p.Ser183Arg
ENST00000700491.1:c.549C>A	ENSP00000515019.1:p.Ser183Arg
ENST00000700492.1:c.549C>A	ENSP00000515021.1:p.Ser183Arg
ENST00000700493.1:n.2194C>A
ENST00000700494.1:n.1804C>A
ENST00000700495.1:c.68-710C>A	ENSP00000515022.1:n.68-710C>A
ENST00000700496.1:n.624C>A
ENST00000392679.6:c.549C>A MANE Select	ENSP00000376446.1:p.Ser183Arg
ENST00000392678.7:c.549C>A	ENSP00000376445.3:p.Ser183Arg
ENST00000392679.5:c.549C>A	ENSP00000376446.1:p.Ser183Arg
ENST00000392680.6:c.549C>A	ENSP00000376447.2:p.Ser183Arg
ENST00000479770.1:c.549C>A	ENSP00000436967.1:p.Ser183Arg
NM_001039661.1:c.549C>A	NP_001034750.1:p.Ser183Arg
NM_148910.2:c.549C>A	NP_683708.1:p.Ser183Arg
XM_005271399.2:c.876C>A	XP_005271456.1:p.Ser292Arg
XM_011542576.1:c.549C>A	XP_011540878.1:p.Ser183Arg
XM_011542577.1:c.717C>A	XP_011540879.1:p.Ser239Arg
XM_011542578.1:c.549C>A	XP_011540880.1:p.Ser183Arg
XM_011542579.1:c.549C>A	XP_011540881.1:p.Ser183Arg
XM_011542580.1:c.549C>A	XP_011540882.1:p.Ser183Arg
XM_011542581.1:c.549C>A	XP_011540883.1:p.Ser183Arg
XM_011542582.1:c.549C>A	XP_011540884.1:p.Ser183Arg
NM_001318776.1:c.549C>A	NP_001305705.1:p.Ser183Arg
NM_001318777.1:c.549C>A	NP_001305706.1:p.Ser183Arg
NM_001039661.2:c.549C>A	NP_001034750.1:p.Ser183Arg
NM_001318776.2:c.549C>A	NP_001305705.1:p.Ser183Arg
NM_001318777.2:c.549C>A MANE Select	NP_001305706.1:p.Ser183Arg
NM_148910.3:c.549C>A	NP_683708.1:p.Ser183Arg