Canonical Allele Identifier: CA280787
Gene: TNFRSF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 97676
dbSNP Id: rs104895245

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6333794A>G , CM000674.2:g.6333794A>G GRCh38
NC_000012.11:g.6442960A>G , CM000674.1:g.6442960A>G GRCh37
NC_000012.10:g.6313221A>G NCBI36
NG_007506.1:g.13302T>C , LRG_193:g.13302T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366159.9:n.299T>C
ENST00000437813.8:c.265T>C ENSP00000513672.1:p.Phe89Leu
ENST00000440083.7:c.265T>C ENSP00000413224.3:p.Phe89Leu
ENST00000535958.2:c.*92T>C ENSP00000513673.1:n.*92T>C
ENST00000698339.1:c.265T>C ENSP00000513670.1:p.Phe89Leu
ENST00000698340.1:c.265T>C ENSP00000513671.1:p.Phe89Leu
ENST00000162749.7:c.265T>C MANE Select ENSP00000162749.2:p.Phe89Leu
ENST00000162749.6:c.265T>C ENSP00000162749.2:p.Phe89Leu
ENST00000366159.8:c.265T>C ENSP00000380389.3:p.Phe89Leu
ENST00000437813.7:n.226T>C
ENST00000440083.6:c.265T>C ENSP00000413224.2:p.Phe89Leu
ENST00000534885.5:c.111T>C ENSP00000441803.1:p.Pro37=
ENST00000535958.1:n.511T>C
ENST00000536194.1:c.238T>C ENSP00000442919.1:p.Phe80Leu
ENST00000539372.5:c.265T>C ENSP00000442059.1:p.Phe89Leu
ENST00000540022.5:c.194-278T>C ENSP00000438343.1:n.194-278T>C
ENST00000543048.5:c.214+51T>C ENSP00000439981.1:n.214+51T>C
ENST00000543995.5:c.193+297T>C ENSP00000442405.1:n.193+297T>C
NM_001065.3:c.265T>C , LRG_193t1:c.265T>C NP_001056.1:p.Phe89Leu
NM_001346091.1:c.-60T>C NP_001333020.1:n.-60T>C
NM_001346092.1:c.-313T>C NP_001333021.1:n.-313T>C
NR_144351.1:n.568T>C
NM_001065.4:c.265T>C MANE Select NP_001056.1:p.Phe89Leu
NM_001346091.2:c.-60T>C NP_001333020.1:n.-60T>C
NM_001346092.2:c.-313T>C NP_001333021.1:n.-313T>C
NR_144351.2:n.527T>C