Canonical Allele Identifier: CA383547707

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439832A>C (hg19) ; chr12:g.6330666A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330666A>C , CM000674.2:g.6330666A>C	GRCh38
NC_000012.11:g.6439832A>C , CM000674.1:g.6439832A>C	GRCh37
NC_000012.10:g.6310093A>C	NCBI36
NG_007506.1:g.16430T>G , LRG_193:g.16430T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1772T>G
ENST00000437813.8:c.*132T>G	ENSP00000513672.1:n.*132T>G
ENST00000440083.7:c.890T>G	ENSP00000413224.3:p.Leu297Arg
ENST00000535038.2:n.853T>G
ENST00000535958.2:c.*498T>G	ENSP00000513673.1:n.*498T>G
ENST00000698337.1:n.661T>G
ENST00000698338.1:n.1085T>G
ENST00000698339.1:c.*166T>G	ENSP00000513670.1:n.*166T>G
ENST00000698340.1:c.597T>G	ENSP00000513671.1:p.Pro199=
ENST00000162749.7:c.671T>G MANE Select	ENSP00000162749.2:p.Leu224Arg
ENST00000162749.6:c.671T>G	ENSP00000162749.2:p.Leu224Arg
ENST00000534885.5:c.*148T>G	ENSP00000441803.1:n.*148T>G
ENST00000535038.1:n.482T>G
ENST00000536717.5:n.575T>G
ENST00000537842.5:n.275T>G
ENST00000539372.5:c.671T>G	ENSP00000442059.1:p.Leu224Arg
ENST00000540022.5:c.542T>G	ENSP00000438343.1:p.Leu181Arg
ENST00000543359.5:n.83T>G
ENST00000543995.5:c.*258T>G	ENSP00000442405.1:n.*258T>G
NM_001065.3:c.671T>G , LRG_193t1:c.671T>G	NP_001056.1:p.Leu224Arg
NM_001346091.1:c.347T>G	NP_001333020.1:p.Leu116Arg
NM_001346092.1:c.212T>G	NP_001333021.1:p.Leu71Arg
NR_144351.1:n.900T>G
NM_001065.4:c.671T>G MANE Select	NP_001056.1:p.Leu224Arg
NM_001346091.2:c.347T>G	NP_001333020.1:p.Leu116Arg
NM_001346092.2:c.212T>G	NP_001333021.1:p.Leu71Arg
NR_144351.2:n.859T>G