Canonical Allele Identifier: CA383549055

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442265A>T (hg19) ; chr12:g.6333099A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333099A>T , CM000674.2:g.6333099A>T	GRCh38
NC_000012.11:g.6442265A>T , CM000674.1:g.6442265A>T	GRCh37
NC_000012.10:g.6312526A>T	NCBI36
NG_007506.1:g.13997T>A , LRG_193:g.13997T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.555T>A
ENST00000437813.8:c.521T>A	ENSP00000513672.1:p.Leu174Gln
ENST00000440083.7:c.740T>A	ENSP00000413224.3:p.Leu247Gln
ENST00000535958.2:c.*348T>A	ENSP00000513673.1:n.*348T>A
ENST00000698339.1:c.521T>A	ENSP00000513670.1:p.Leu174Gln
ENST00000698340.1:c.521T>A	ENSP00000513671.1:p.Leu174Gln
ENST00000162749.7:c.521T>A MANE Select	ENSP00000162749.2:p.Leu174Gln
ENST00000162749.6:c.521T>A	ENSP00000162749.2:p.Leu174Gln
ENST00000366159.8:c.521T>A	ENSP00000380389.3:p.Leu174Gln
ENST00000437813.7:n.482T>A
ENST00000440083.6:c.740T>A	ENSP00000413224.2:p.Leu247Gln
ENST00000534885.5:c.367T>A	ENSP00000441803.1:p.Ter123Lys
ENST00000537842.5:n.125T>A
ENST00000539372.5:c.521T>A	ENSP00000442059.1:p.Leu174Gln
ENST00000540022.5:c.392T>A	ENSP00000438343.1:p.Leu131Gln
ENST00000543048.5:c.*132T>A	ENSP00000439981.1:n.*132T>A
ENST00000543359.5:n.7T>A
ENST00000543995.5:c.*108T>A	ENSP00000442405.1:n.*108T>A
NM_001065.3:c.521T>A , LRG_193t1:c.521T>A	NP_001056.1:p.Leu174Gln
NM_001346091.1:c.197T>A	NP_001333020.1:p.Leu66Gln
NM_001346092.1:c.-57T>A	NP_001333021.1:n.-57T>A
NR_144351.1:n.824T>A
NM_001065.4:c.521T>A MANE Select	NP_001056.1:p.Leu174Gln
NM_001346091.2:c.197T>A	NP_001333020.1:p.Leu66Gln
NM_001346092.2:c.-57T>A	NP_001333021.1:n.-57T>A
NR_144351.2:n.783T>A