Canonical Allele Identifier: CA478113077

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 2703004
• ClinVar RCV Id: RCV003512856
• MyVariant Identifiers: chr12:g.6442240A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333074A>G , CM000674.2:g.6333074A>G	GRCh38
NC_000012.11:g.6442240A>G , CM000674.1:g.6442240A>G	GRCh37
NC_000012.10:g.6312501A>G	NCBI36
NG_007506.1:g.14022T>C , LRG_193:g.14022T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.580T>C
ENST00000437813.8:c.546T>C	ENSP00000513672.1:p.Cys182=
ENST00000440083.7:c.765T>C	ENSP00000413224.3:p.Cys255=
ENST00000535958.2:c.*373T>C	ENSP00000513673.1:n.*373T>C
ENST00000698339.1:c.546T>C	ENSP00000513670.1:p.Cys182=
ENST00000698340.1:c.546T>C	ENSP00000513671.1:p.Cys182=
ENST00000162749.7:c.546T>C MANE Select	ENSP00000162749.2:p.Cys182=
ENST00000162749.6:c.546T>C	ENSP00000162749.2:p.Cys182=
ENST00000366159.8:c.546T>C	ENSP00000380389.3:p.Cys182=
ENST00000437813.7:n.507T>C
ENST00000534885.5:c.*23T>C	ENSP00000441803.1:n.*23T>C
ENST00000537842.5:n.150T>C
ENST00000539372.5:c.546T>C	ENSP00000442059.1:p.Cys182=
ENST00000540022.5:c.417T>C	ENSP00000438343.1:p.Cys139=
ENST00000543048.5:c.*157T>C	ENSP00000439981.1:n.*157T>C
ENST00000543359.5:n.32T>C
ENST00000543995.5:c.*133T>C	ENSP00000442405.1:n.*133T>C
NM_001065.3:c.546T>C , LRG_193t1:c.546T>C	NP_001056.1:p.Cys182=
NM_001346091.1:c.222T>C	NP_001333020.1:p.Cys74=
NM_001346092.1:c.-32T>C	NP_001333021.1:n.-32T>C
NR_144351.1:n.849T>C
NM_001065.4:c.546T>C MANE Select	NP_001056.1:p.Cys182=
NM_001346091.2:c.222T>C	NP_001333020.1:p.Cys74=
NM_001346092.2:c.-32T>C	NP_001333021.1:n.-32T>C
NR_144351.2:n.808T>C