Canonical Allele Identifier: CA383548147

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440078A>C (hg19) ; chr12:g.6330912A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330912A>C , CM000674.2:g.6330912A>C	GRCh38
NC_000012.11:g.6440078A>C , CM000674.1:g.6440078A>C	GRCh37
NC_000012.10:g.6310339A>C	NCBI36
NG_007506.1:g.16184T>G , LRG_193:g.16184T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1667T>G
ENST00000437813.8:c.*27T>G	ENSP00000513672.1:n.*27T>G
ENST00000440083.7:c.785T>G	ENSP00000413224.3:p.Leu262Arg
ENST00000535038.2:n.748T>G
ENST00000535958.2:c.*393T>G	ENSP00000513673.1:n.*393T>G
ENST00000698337.1:n.415T>G
ENST00000698338.1:n.839T>G
ENST00000698339.1:c.*61T>G	ENSP00000513670.1:n.*61T>G
ENST00000698340.1:c.552-201T>G	ENSP00000513671.1:n.552-201T>G
ENST00000162749.7:c.566T>G MANE Select	ENSP00000162749.2:p.Leu189Arg
ENST00000162749.6:c.566T>G	ENSP00000162749.2:p.Leu189Arg
ENST00000534885.5:c.*43T>G	ENSP00000441803.1:n.*43T>G
ENST00000535038.1:n.236T>G
ENST00000536717.5:n.470T>G
ENST00000537842.5:n.170T>G
ENST00000539372.5:c.566T>G	ENSP00000442059.1:p.Leu189Arg
ENST00000540022.5:c.437T>G	ENSP00000438343.1:p.Leu146Arg
ENST00000543359.5:n.38-201T>G
ENST00000543995.5:c.*153T>G	ENSP00000442405.1:n.*153T>G
NM_001065.3:c.566T>G , LRG_193t1:c.566T>G	NP_001056.1:p.Leu189Arg
NM_001346091.1:c.242T>G	NP_001333020.1:p.Leu81Arg
NM_001346092.1:c.107T>G	NP_001333021.1:p.Leu36Arg
NR_144351.1:n.855-201T>G
NM_001065.4:c.566T>G MANE Select	NP_001056.1:p.Leu189Arg
NM_001346091.2:c.242T>G	NP_001333020.1:p.Leu81Arg
NM_001346092.2:c.107T>G	NP_001333021.1:p.Leu36Arg
NR_144351.2:n.814-201T>G