Canonical Allele Identifier: CA478113090
Gene: TNFRSF1A HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.6442264T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333098T>G , CM000674.2:g.6333098T>G GRCh38
NC_000012.11:g.6442264T>G , CM000674.1:g.6442264T>G GRCh37
NC_000012.10:g.6312525T>G NCBI36
NG_007506.1:g.13998A>C , LRG_193:g.13998A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.556A>C
ENST00000437813.8:c.522A>C ENSP00000513672.1:p.Leu174=
ENST00000440083.7:c.741A>C ENSP00000413224.3:p.Leu247=
ENST00000535958.2:c.*349A>C ENSP00000513673.1:n.*349A>C
ENST00000698339.1:c.522A>C ENSP00000513670.1:p.Leu174=
ENST00000698340.1:c.522A>C ENSP00000513671.1:p.Leu174=
ENST00000162749.7:c.522A>C MANE Select ENSP00000162749.2:p.Leu174=
ENST00000162749.6:c.522A>C ENSP00000162749.2:p.Leu174=
ENST00000366159.8:c.522A>C ENSP00000380389.3:p.Leu174=
ENST00000437813.7:n.483A>C
ENST00000440083.6:c.741A>C ENSP00000413224.2:p.Leu247=
ENST00000534885.5:c.368A>C ENSP00000441803.1:p.Ter123Ser
ENST00000537842.5:n.126A>C
ENST00000539372.5:c.522A>C ENSP00000442059.1:p.Leu174=
ENST00000540022.5:c.393A>C ENSP00000438343.1:p.Leu131=
ENST00000543048.5:c.*133A>C ENSP00000439981.1:n.*133A>C
ENST00000543359.5:n.8A>C
ENST00000543995.5:c.*109A>C ENSP00000442405.1:n.*109A>C
NM_001065.3:c.522A>C , LRG_193t1:c.522A>C NP_001056.1:p.Leu174=
NM_001346091.1:c.198A>C NP_001333020.1:p.Leu66=
NM_001346092.1:c.-56A>C NP_001333021.1:n.-56A>C
NR_144351.1:n.825A>C
NM_001065.4:c.522A>C MANE Select NP_001056.1:p.Leu174=
NM_001346091.2:c.198A>C NP_001333020.1:p.Leu66=
NM_001346092.2:c.-56A>C NP_001333021.1:n.-56A>C
NR_144351.2:n.784A>C