Canonical Allele Identifier: CA383548155

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 2604159
• ClinVar RCV Id: RCV003366669
• MyVariant Identifiers: chr12:g.6440081C>G (hg19) ; chr12:g.6330915C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330915C>G , CM000674.2:g.6330915C>G	GRCh38
NC_000012.11:g.6440081C>G , CM000674.1:g.6440081C>G	GRCh37
NC_000012.10:g.6310342C>G	NCBI36
NG_007506.1:g.16181G>C , LRG_193:g.16181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1664G>C
ENST00000437813.8:c.*24G>C	ENSP00000513672.1:n.*24G>C
ENST00000440083.7:c.782G>C	ENSP00000413224.3:p.Ser261Thr
ENST00000535038.2:n.745G>C
ENST00000535958.2:c.*390G>C	ENSP00000513673.1:n.*390G>C
ENST00000698337.1:n.412G>C
ENST00000698338.1:n.836G>C
ENST00000698339.1:c.*58G>C	ENSP00000513670.1:n.*58G>C
ENST00000698340.1:c.552-204G>C	ENSP00000513671.1:n.552-204G>C
ENST00000162749.7:c.563G>C MANE Select	ENSP00000162749.2:p.Ser188Thr
ENST00000162749.6:c.563G>C	ENSP00000162749.2:p.Ser188Thr
ENST00000534885.5:c.*40G>C	ENSP00000441803.1:n.*40G>C
ENST00000535038.1:n.233G>C
ENST00000536717.5:n.467G>C
ENST00000537842.5:n.167G>C
ENST00000539372.5:c.563G>C	ENSP00000442059.1:p.Ser188Thr
ENST00000540022.5:c.434G>C	ENSP00000438343.1:p.Ser145Thr
ENST00000543359.5:n.38-204G>C
ENST00000543995.5:c.*150G>C	ENSP00000442405.1:n.*150G>C
NM_001065.3:c.563G>C , LRG_193t1:c.563G>C	NP_001056.1:p.Ser188Thr
NM_001346091.1:c.239G>C	NP_001333020.1:p.Ser80Thr
NM_001346092.1:c.104G>C	NP_001333021.1:p.Ser35Thr
NR_144351.1:n.855-204G>C
NM_001065.4:c.563G>C MANE Select	NP_001056.1:p.Ser188Thr
NM_001346091.2:c.239G>C	NP_001333020.1:p.Ser80Thr
NM_001346092.2:c.104G>C	NP_001333021.1:p.Ser35Thr
NR_144351.2:n.814-204G>C