Canonical Allele Identifier: CA232326453
Community Standard Title: NM_001065.4(TNFRSF1A):c.839C>A (p.Thr280Asn)
Gene: TNFRSF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329996G>T , CM000674.2:g.6329996G>T GRCh38
NC_000012.11:g.6439162G>T , CM000674.1:g.6439162G>T GRCh37
NC_000012.10:g.6309423G>T NCBI36
NG_007506.1:g.17100C>A , LRG_193:g.17100C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001065.4:c.839C>A MANE Select NP_001056.1:p.Thr280Asn
ENST00000162749.7:c.839C>A MANE Select ENSP00000162749.2:p.Thr280Asn
NM_001065.3:c.839C>A , LRG_193t1:c.839C>A NP_001056.1:p.Thr280Asn
NM_001346091.1:c.515C>A NP_001333020.1:p.Thr172Asn
NM_001346091.2:c.515C>A NP_001333020.1:p.Thr172Asn
NM_001346092.1:c.380C>A NP_001333021.1:p.Thr127Asn
NM_001346092.2:c.380C>A NP_001333021.1:p.Thr127Asn
NR_144351.1:n.1068C>A
NR_144351.2:n.1027C>A
ENST00000162749.6:c.839C>A ENSP00000162749.2:p.Thr280Asn
ENST00000366159.9:n.1940C>A
ENST00000437813.8:c.*300C>A ENSP00000513672.1:n.*300C>A
ENST00000440083.7:c.1058C>A ENSP00000413224.3:p.Thr353Asn
ENST00000534885.5:c.*316C>A ENSP00000441803.1:n.*316C>A
ENST00000535038.2:n.1221C>A
ENST00000535958.2:c.*666C>A ENSP00000513673.1:n.*666C>A
ENST00000536717.5:n.743C>A
ENST00000537842.5:n.373-97C>A
ENST00000540022.5:c.710C>A ENSP00000438343.1:p.Thr237Asn
ENST00000543359.5:n.251C>A
ENST00000543995.5:c.*426C>A ENSP00000442405.1:n.*426C>A
ENST00000698337.1:n.800C>A
ENST00000698338.1:n.1453C>A
ENST00000698339.1:c.*334C>A ENSP00000513670.1:n.*334C>A
ENST00000698340.1:c.*78C>A ENSP00000513671.1:n.*78C>A