Canonical Allele Identifier: CA383549116

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 1473412
• ClinVar RCV Id: RCV002005248
• dbSNP Id: rs2136821295
• MyVariant Identifiers: chr12:g.6442292A>G (hg19) ; chr12:g.6333126A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333126A>G , CM000674.2:g.6333126A>G	GRCh38
NC_000012.11:g.6442292A>G , CM000674.1:g.6442292A>G	GRCh37
NC_000012.10:g.6312553A>G	NCBI36
NG_007506.1:g.13970T>C , LRG_193:g.13970T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.528T>C
ENST00000437813.8:c.494T>C	ENSP00000513672.1:p.Val165Ala
ENST00000440083.7:c.713T>C	ENSP00000413224.3:p.Val238Ala
ENST00000535958.2:c.*321T>C	ENSP00000513673.1:n.*321T>C
ENST00000698339.1:c.494T>C	ENSP00000513670.1:p.Val165Ala
ENST00000698340.1:c.494T>C	ENSP00000513671.1:p.Val165Ala
ENST00000162749.7:c.494T>C MANE Select	ENSP00000162749.2:p.Val165Ala
ENST00000162749.6:c.494T>C	ENSP00000162749.2:p.Val165Ala
ENST00000366159.8:c.494T>C	ENSP00000380389.3:p.Val165Ala
ENST00000437813.7:n.455T>C
ENST00000440083.6:c.713T>C	ENSP00000413224.2:p.Val238Ala
ENST00000534885.5:c.340T>C	ENSP00000441803.1:p.Cys114Arg
ENST00000537842.5:n.98T>C
ENST00000539372.5:c.494T>C	ENSP00000442059.1:p.Val165Ala
ENST00000540022.5:c.365T>C	ENSP00000438343.1:p.Val122Ala
ENST00000543048.5:c.*105T>C	ENSP00000439981.1:n.*105T>C
ENST00000543995.5:c.*81T>C	ENSP00000442405.1:n.*81T>C
NM_001065.3:c.494T>C , LRG_193t1:c.494T>C	NP_001056.1:p.Val165Ala
NM_001346091.1:c.170T>C	NP_001333020.1:p.Val57Ala
NM_001346092.1:c.-84T>C	NP_001333021.1:n.-84T>C
NR_144351.1:n.797T>C
NM_001065.4:c.494T>C MANE Select	NP_001056.1:p.Val165Ala
NM_001346091.2:c.170T>C	NP_001333020.1:p.Val57Ala
NM_001346092.2:c.-84T>C	NP_001333021.1:n.-84T>C
NR_144351.2:n.756T>C