Canonical Allele Identifier: CA383548072

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1450587985
• gnomAD v2: 12-6440058-G-C
• gnomAD v4: 12-6330892-G-C
• MyVariant Identifiers: chr12:g.6440058G>C (hg19) ; chr12:g.6330892G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330892G>C , CM000674.2:g.6330892G>C	GRCh38
NC_000012.11:g.6440058G>C , CM000674.1:g.6440058G>C	GRCh37
NC_000012.10:g.6310319G>C	NCBI36
NG_007506.1:g.16204C>G , LRG_193:g.16204C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1687C>G
ENST00000437813.8:c.*47C>G	ENSP00000513672.1:n.*47C>G
ENST00000440083.7:c.805C>G	ENSP00000413224.3:p.Leu269Val
ENST00000535038.2:n.768C>G
ENST00000535958.2:c.*413C>G	ENSP00000513673.1:n.*413C>G
ENST00000698337.1:n.435C>G
ENST00000698338.1:n.859C>G
ENST00000698339.1:c.*81C>G	ENSP00000513670.1:n.*81C>G
ENST00000698340.1:c.552-181C>G	ENSP00000513671.1:n.552-181C>G
ENST00000162749.7:c.586C>G MANE Select	ENSP00000162749.2:p.Leu196Val
ENST00000162749.6:c.586C>G	ENSP00000162749.2:p.Leu196Val
ENST00000534885.5:c.*63C>G	ENSP00000441803.1:n.*63C>G
ENST00000535038.1:n.256C>G
ENST00000536717.5:n.490C>G
ENST00000537842.5:n.190C>G
ENST00000539372.5:c.586C>G	ENSP00000442059.1:p.Leu196Val
ENST00000540022.5:c.457C>G	ENSP00000438343.1:p.Leu153Val
ENST00000543359.5:n.38-181C>G
ENST00000543995.5:c.*173C>G	ENSP00000442405.1:n.*173C>G
NM_001065.3:c.586C>G , LRG_193t1:c.586C>G	NP_001056.1:p.Leu196Val
NM_001346091.1:c.262C>G	NP_001333020.1:p.Leu88Val
NM_001346092.1:c.127C>G	NP_001333021.1:p.Leu43Val
NR_144351.1:n.855-181C>G
NM_001065.4:c.586C>G MANE Select	NP_001056.1:p.Leu196Val
NM_001346091.2:c.262C>G	NP_001333020.1:p.Leu88Val
NM_001346092.2:c.127C>G	NP_001333021.1:p.Leu43Val
NR_144351.2:n.814-181C>G