Canonical Allele Identifier: CA383547477

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439775A>C (hg19) ; chr12:g.6330609A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330609A>C , CM000674.2:g.6330609A>C	GRCh38
NC_000012.11:g.6439775A>C , CM000674.1:g.6439775A>C	GRCh37
NC_000012.10:g.6310036A>C	NCBI36
NG_007506.1:g.16487T>G , LRG_193:g.16487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1829T>G
ENST00000437813.8:c.*189T>G	ENSP00000513672.1:n.*189T>G
ENST00000440083.7:c.947T>G	ENSP00000413224.3:p.Leu316Arg
ENST00000535038.2:n.910T>G
ENST00000535958.2:c.*555T>G	ENSP00000513673.1:n.*555T>G
ENST00000698337.1:n.718T>G
ENST00000698338.1:n.1142T>G
ENST00000698339.1:c.*223T>G	ENSP00000513670.1:n.*223T>G
ENST00000698340.1:c.654T>G	ENSP00000513671.1:p.Ala218=
ENST00000162749.7:c.728T>G MANE Select	ENSP00000162749.2:p.Leu243Arg
ENST00000162749.6:c.728T>G	ENSP00000162749.2:p.Leu243Arg
ENST00000534885.5:c.*205T>G	ENSP00000441803.1:n.*205T>G
ENST00000535038.1:n.539T>G
ENST00000536717.5:n.632T>G
ENST00000537842.5:n.332T>G
ENST00000539372.5:c.728T>G	ENSP00000442059.1:p.Leu243Arg
ENST00000540022.5:c.599T>G	ENSP00000438343.1:p.Leu200Arg
ENST00000543359.5:n.140T>G
ENST00000543995.5:c.*315T>G	ENSP00000442405.1:n.*315T>G
NM_001065.3:c.728T>G , LRG_193t1:c.728T>G	NP_001056.1:p.Leu243Arg
NM_001346091.1:c.404T>G	NP_001333020.1:p.Leu135Arg
NM_001346092.1:c.269T>G	NP_001333021.1:p.Leu90Arg
NR_144351.1:n.957T>G
NM_001065.4:c.728T>G MANE Select	NP_001056.1:p.Leu243Arg
NM_001346091.2:c.404T>G	NP_001333020.1:p.Leu135Arg
NM_001346092.2:c.269T>G	NP_001333021.1:p.Leu90Arg
NR_144351.2:n.916T>G