Canonical Allele Identifier: CA280155

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 12340
• ClinVar RCV Id: RCV000013133
• dbSNP Id: rs104895222
• MyVariant Identifiers: chr12:g.6442655C>T (hg19) ; chr12:g.6333489C>T (hg38)
• PubMed: PMID:1402641 ; PMID:10199409

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333489C>T , CM000674.2:g.6333489C>T	GRCh38
NC_000012.11:g.6442655C>T , CM000674.1:g.6442655C>T	GRCh37
NC_000012.10:g.6312916C>T	NCBI36
NG_007506.1:g.13607G>A , LRG_193:g.13607G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.384G>A
ENST00000437813.8:c.350G>A	ENSP00000513672.1:p.Cys117Tyr
ENST00000440083.7:c.350G>A	ENSP00000413224.3:p.Cys117Tyr
ENST00000535958.2:c.*177G>A	ENSP00000513673.1:n.*177G>A
ENST00000698339.1:c.350G>A	ENSP00000513670.1:p.Cys117Tyr
ENST00000698340.1:c.350G>A	ENSP00000513671.1:p.Cys117Tyr
ENST00000162749.7:c.350G>A MANE Select	ENSP00000162749.2:p.Cys117Tyr
ENST00000162749.6:c.350G>A	ENSP00000162749.2:p.Cys117Tyr
ENST00000366159.8:c.350G>A	ENSP00000380389.3:p.Cys117Tyr
ENST00000437813.7:n.311G>A
ENST00000440083.6:c.350G>A	ENSP00000413224.2:p.Cys117Tyr
ENST00000534885.5:c.196G>A	ENSP00000441803.1:p.Ala66Thr
ENST00000536194.1:c.323G>A	ENSP00000442919.1:p.Cys108Tyr
ENST00000539372.5:c.350G>A	ENSP00000442059.1:p.Cys117Tyr
ENST00000540022.5:c.221G>A	ENSP00000438343.1:p.Cys74Tyr
ENST00000543048.5:c.215-38G>A	ENSP00000439981.1:n.215-38G>A
ENST00000543995.5:c.194-38G>A	ENSP00000442405.1:n.194-38G>A
NM_001065.3:c.350G>A , LRG_193t1:c.350G>A	NP_001056.1:p.Cys117Tyr
NM_001346091.1:c.26G>A	NP_001333020.1:p.Cys9Tyr
NM_001346092.1:c.-228G>A	NP_001333021.1:n.-228G>A
NR_144351.1:n.653G>A
NM_001065.4:c.350G>A MANE Select	NP_001056.1:p.Cys117Tyr
NM_001346091.2:c.26G>A	NP_001333020.1:p.Cys9Tyr
NM_001346092.2:c.-228G>A	NP_001333021.1:n.-228G>A
NR_144351.2:n.612G>A