Canonical Allele Identifier: CA383550020

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442587G>C (hg19) ; chr12:g.6333421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333421G>C , CM000674.2:g.6333421G>C	GRCh38
NC_000012.11:g.6442587G>C , CM000674.1:g.6442587G>C	GRCh37
NC_000012.10:g.6312848G>C	NCBI36
NG_007506.1:g.13675C>G , LRG_193:g.13675C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.452C>G
ENST00000437813.8:c.418C>G	ENSP00000513672.1:p.Leu140Val
ENST00000440083.7:c.418C>G	ENSP00000413224.3:p.Leu140Val
ENST00000535958.2:c.*245C>G	ENSP00000513673.1:n.*245C>G
ENST00000698339.1:c.418C>G	ENSP00000513670.1:p.Leu140Val
ENST00000698340.1:c.418C>G	ENSP00000513671.1:p.Leu140Val
ENST00000162749.7:c.418C>G MANE Select	ENSP00000162749.2:p.Leu140Val
ENST00000162749.6:c.418C>G	ENSP00000162749.2:p.Leu140Val
ENST00000366159.8:c.418C>G	ENSP00000380389.3:p.Leu140Val
ENST00000437813.7:n.379C>G
ENST00000440083.6:c.418C>G	ENSP00000413224.2:p.Leu140Val
ENST00000534885.5:c.264C>G	ENSP00000441803.1:p.Thr88=
ENST00000537842.5:n.22C>G
ENST00000539372.5:c.418C>G	ENSP00000442059.1:p.Leu140Val
ENST00000540022.5:c.289C>G	ENSP00000438343.1:p.Leu97Val
ENST00000543048.5:c.*29C>G	ENSP00000439981.1:n.*29C>G
ENST00000543995.5:c.*5C>G	ENSP00000442405.1:n.*5C>G
NM_001065.3:c.418C>G , LRG_193t1:c.418C>G	NP_001056.1:p.Leu140Val
NM_001346091.1:c.94C>G	NP_001333020.1:p.Leu32Val
NM_001346092.1:c.-160C>G	NP_001333021.1:n.-160C>G
NR_144351.1:n.721C>G
NM_001065.4:c.418C>G MANE Select	NP_001056.1:p.Leu140Val
NM_001346091.2:c.94C>G	NP_001333020.1:p.Leu32Val
NM_001346092.2:c.-160C>G	NP_001333021.1:n.-160C>G
NR_144351.2:n.680C>G