Canonical Allele Identifier: CA383549064

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442269A>G (hg19) ; chr12:g.6333103A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333103A>G , CM000674.2:g.6333103A>G	GRCh38
NC_000012.11:g.6442269A>G , CM000674.1:g.6442269A>G	GRCh37
NC_000012.10:g.6312530A>G	NCBI36
NG_007506.1:g.13993T>C , LRG_193:g.13993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.551T>C
ENST00000437813.8:c.517T>C	ENSP00000513672.1:p.Phe173Leu
ENST00000440083.7:c.736T>C	ENSP00000413224.3:p.Phe246Leu
ENST00000535958.2:c.*344T>C	ENSP00000513673.1:n.*344T>C
ENST00000698339.1:c.517T>C	ENSP00000513670.1:p.Phe173Leu
ENST00000698340.1:c.517T>C	ENSP00000513671.1:p.Phe173Leu
ENST00000162749.7:c.517T>C MANE Select	ENSP00000162749.2:p.Phe173Leu
ENST00000162749.6:c.517T>C	ENSP00000162749.2:p.Phe173Leu
ENST00000366159.8:c.517T>C	ENSP00000380389.3:p.Phe173Leu
ENST00000437813.7:n.478T>C
ENST00000440083.6:c.736T>C	ENSP00000413224.2:p.Phe246Leu
ENST00000534885.5:c.363T>C	ENSP00000441803.1:p.Ser121=
ENST00000537842.5:n.121T>C
ENST00000539372.5:c.517T>C	ENSP00000442059.1:p.Phe173Leu
ENST00000540022.5:c.388T>C	ENSP00000438343.1:p.Phe130Leu
ENST00000543048.5:c.*128T>C	ENSP00000439981.1:n.*128T>C
ENST00000543359.5:n.3T>C
ENST00000543995.5:c.*104T>C	ENSP00000442405.1:n.*104T>C
NM_001065.3:c.517T>C , LRG_193t1:c.517T>C	NP_001056.1:p.Phe173Leu
NM_001346091.1:c.193T>C	NP_001333020.1:p.Phe65Leu
NM_001346092.1:c.-61T>C	NP_001333021.1:n.-61T>C
NR_144351.1:n.820T>C
NM_001065.4:c.517T>C MANE Select	NP_001056.1:p.Phe173Leu
NM_001346091.2:c.193T>C	NP_001333020.1:p.Phe65Leu
NM_001346092.2:c.-61T>C	NP_001333021.1:n.-61T>C
NR_144351.2:n.779T>C