Canonical Allele Identifier: CA280153

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 12339
• ClinVar RCV Id: RCV000013132
• dbSNP Id: rs104895221
• MyVariant Identifiers: chr12:g.6442656A>G (hg19) ; chr12:g.6333490A>G (hg38)
• PubMed: PMID:9529351 ; PMID:10199409

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333490A>G , CM000674.2:g.6333490A>G	GRCh38
NC_000012.11:g.6442656A>G , CM000674.1:g.6442656A>G	GRCh37
NC_000012.10:g.6312917A>G	NCBI36
NG_007506.1:g.13606T>C , LRG_193:g.13606T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.383T>C
ENST00000437813.8:c.349T>C	ENSP00000513672.1:p.Cys117Arg
ENST00000440083.7:c.349T>C	ENSP00000413224.3:p.Cys117Arg
ENST00000535958.2:c.*176T>C	ENSP00000513673.1:n.*176T>C
ENST00000698339.1:c.349T>C	ENSP00000513670.1:p.Cys117Arg
ENST00000698340.1:c.349T>C	ENSP00000513671.1:p.Cys117Arg
ENST00000162749.7:c.349T>C MANE Select	ENSP00000162749.2:p.Cys117Arg
ENST00000162749.6:c.349T>C	ENSP00000162749.2:p.Cys117Arg
ENST00000366159.8:c.349T>C	ENSP00000380389.3:p.Cys117Arg
ENST00000437813.7:n.310T>C
ENST00000440083.6:c.349T>C	ENSP00000413224.2:p.Cys117Arg
ENST00000534885.5:c.195T>C	ENSP00000441803.1:p.Leu65=
ENST00000536194.1:c.322T>C	ENSP00000442919.1:p.Cys108Arg
ENST00000539372.5:c.349T>C	ENSP00000442059.1:p.Cys117Arg
ENST00000540022.5:c.220T>C	ENSP00000438343.1:p.Cys74Arg
ENST00000543048.5:c.215-39T>C	ENSP00000439981.1:n.215-39T>C
ENST00000543995.5:c.194-39T>C	ENSP00000442405.1:n.194-39T>C
NM_001065.3:c.349T>C , LRG_193t1:c.349T>C	NP_001056.1:p.Cys117Arg
NM_001346091.1:c.25T>C	NP_001333020.1:p.Cys9Arg
NM_001346092.1:c.-229T>C	NP_001333021.1:n.-229T>C
NR_144351.1:n.652T>C
NM_001065.4:c.349T>C MANE Select	NP_001056.1:p.Cys117Arg
NM_001346091.2:c.25T>C	NP_001333020.1:p.Cys9Arg
NM_001346092.2:c.-229T>C	NP_001333021.1:n.-229T>C
NR_144351.2:n.611T>C