Canonical Allele Identifier: CA280775

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97672
• ClinVar RCV Id: RCV000083925 ; RCV000623133
• dbSNP Id: rs104895253
• MyVariant Identifiers: chr12:g.6442975A>G (hg19) ; chr12:g.6333809A>G (hg38)
• PubMed: PMID:23965844 ; PMID:24393624 ; PMID:25637003 ; PMID:26299986 ; PMID:26598380 ; PMID:26821543 ; PMID:26965498 ; PMID:26992170 ; PMID:27068928

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333809A>G , CM000674.2:g.6333809A>G	GRCh38
NC_000012.11:g.6442975A>G , CM000674.1:g.6442975A>G	GRCh37
NC_000012.10:g.6313236A>G	NCBI36
NG_007506.1:g.13287T>C , LRG_193:g.13287T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.284T>C
ENST00000437813.8:c.250T>C	ENSP00000513672.1:p.Cys84Arg
ENST00000440083.7:c.250T>C	ENSP00000413224.3:p.Cys84Arg
ENST00000535958.2:c.*77T>C	ENSP00000513673.1:n.*77T>C
ENST00000698339.1:c.250T>C	ENSP00000513670.1:p.Cys84Arg
ENST00000698340.1:c.250T>C	ENSP00000513671.1:p.Cys84Arg
ENST00000162749.7:c.250T>C MANE Select	ENSP00000162749.2:p.Cys84Arg
ENST00000162749.6:c.250T>C	ENSP00000162749.2:p.Cys84Arg
ENST00000366159.8:c.250T>C	ENSP00000380389.3:p.Cys84Arg
ENST00000437813.7:n.211T>C
ENST00000440083.6:c.250T>C	ENSP00000413224.2:p.Cys84Arg
ENST00000534885.5:c.96T>C	ENSP00000441803.1:p.Ser32=
ENST00000535958.1:n.496T>C
ENST00000536194.1:c.223T>C	ENSP00000442919.1:p.Cys75Arg
ENST00000539372.5:c.250T>C	ENSP00000442059.1:p.Cys84Arg
ENST00000540022.5:c.193+282T>C	ENSP00000438343.1:n.193+282T>C
ENST00000543048.5:c.214+36T>C	ENSP00000439981.1:n.214+36T>C
ENST00000543995.5:c.193+282T>C	ENSP00000442405.1:n.193+282T>C
NM_001065.3:c.250T>C , LRG_193t1:c.250T>C	NP_001056.1:p.Cys84Arg
NM_001346091.1:c.-75T>C	NP_001333020.1:n.-75T>C
NM_001346092.1:c.-328T>C	NP_001333021.1:n.-328T>C
NR_144351.1:n.553T>C
NM_001065.4:c.250T>C MANE Select	NP_001056.1:p.Cys84Arg
NM_001346091.2:c.-75T>C	NP_001333020.1:n.-75T>C
NM_001346092.2:c.-328T>C	NP_001333021.1:n.-328T>C
NR_144351.2:n.512T>C