Canonical Allele Identifier: CA383549058

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442267A>C (hg19) ; chr12:g.6333101A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333101A>C , CM000674.2:g.6333101A>C	GRCh38
NC_000012.11:g.6442267A>C , CM000674.1:g.6442267A>C	GRCh37
NC_000012.10:g.6312528A>C	NCBI36
NG_007506.1:g.13995T>G , LRG_193:g.13995T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.553T>G
ENST00000437813.8:c.519T>G	ENSP00000513672.1:p.Phe173Leu
ENST00000440083.7:c.738T>G	ENSP00000413224.3:p.Phe246Leu
ENST00000535958.2:c.*346T>G	ENSP00000513673.1:n.*346T>G
ENST00000698339.1:c.519T>G	ENSP00000513670.1:p.Phe173Leu
ENST00000698340.1:c.519T>G	ENSP00000513671.1:p.Phe173Leu
ENST00000162749.7:c.519T>G MANE Select	ENSP00000162749.2:p.Phe173Leu
ENST00000162749.6:c.519T>G	ENSP00000162749.2:p.Phe173Leu
ENST00000366159.8:c.519T>G	ENSP00000380389.3:p.Phe173Leu
ENST00000437813.7:n.480T>G
ENST00000440083.6:c.738T>G	ENSP00000413224.2:p.Phe246Leu
ENST00000534885.5:c.365T>G	ENSP00000441803.1:p.Phe122Cys
ENST00000537842.5:n.123T>G
ENST00000539372.5:c.519T>G	ENSP00000442059.1:p.Phe173Leu
ENST00000540022.5:c.390T>G	ENSP00000438343.1:p.Phe130Leu
ENST00000543048.5:c.*130T>G	ENSP00000439981.1:n.*130T>G
ENST00000543359.5:n.5T>G
ENST00000543995.5:c.*106T>G	ENSP00000442405.1:n.*106T>G
NM_001065.3:c.519T>G , LRG_193t1:c.519T>G	NP_001056.1:p.Phe173Leu
NM_001346091.1:c.195T>G	NP_001333020.1:p.Phe65Leu
NM_001346092.1:c.-59T>G	NP_001333021.1:n.-59T>G
NR_144351.1:n.822T>G
NM_001065.4:c.519T>G MANE Select	NP_001056.1:p.Phe173Leu
NM_001346091.2:c.195T>G	NP_001333020.1:p.Phe65Leu
NM_001346092.2:c.-59T>G	NP_001333021.1:n.-59T>G
NR_144351.2:n.781T>G