Canonical Allele Identifier: CA383548054

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440054G>A (hg19) ; chr12:g.6330888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330888G>A , CM000674.2:g.6330888G>A	GRCh38
NC_000012.11:g.6440054G>A , CM000674.1:g.6440054G>A	GRCh37
NC_000012.10:g.6310315G>A	NCBI36
NG_007506.1:g.16208C>T , LRG_193:g.16208C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1691C>T
ENST00000437813.8:c.*51C>T	ENSP00000513672.1:n.*51C>T
ENST00000440083.7:c.809C>T	ENSP00000413224.3:p.Pro270Leu
ENST00000535038.2:n.772C>T
ENST00000535958.2:c.*417C>T	ENSP00000513673.1:n.*417C>T
ENST00000698337.1:n.439C>T
ENST00000698338.1:n.863C>T
ENST00000698339.1:c.*85C>T	ENSP00000513670.1:n.*85C>T
ENST00000698340.1:c.552-177C>T	ENSP00000513671.1:n.552-177C>T
ENST00000162749.7:c.590C>T MANE Select	ENSP00000162749.2:p.Pro197Leu
ENST00000162749.6:c.590C>T	ENSP00000162749.2:p.Pro197Leu
ENST00000534885.5:c.*67C>T	ENSP00000441803.1:n.*67C>T
ENST00000535038.1:n.260C>T
ENST00000536717.5:n.494C>T
ENST00000537842.5:n.194C>T
ENST00000539372.5:c.590C>T	ENSP00000442059.1:p.Pro197Leu
ENST00000540022.5:c.461C>T	ENSP00000438343.1:p.Pro154Leu
ENST00000543359.5:n.38-177C>T
ENST00000543995.5:c.*177C>T	ENSP00000442405.1:n.*177C>T
NM_001065.3:c.590C>T , LRG_193t1:c.590C>T	NP_001056.1:p.Pro197Leu
NM_001346091.1:c.266C>T	NP_001333020.1:p.Pro89Leu
NM_001346092.1:c.131C>T	NP_001333021.1:p.Pro44Leu
NR_144351.1:n.855-177C>T
NM_001065.4:c.590C>T MANE Select	NP_001056.1:p.Pro197Leu
NM_001346091.2:c.266C>T	NP_001333020.1:p.Pro89Leu
NM_001346092.2:c.131C>T	NP_001333021.1:p.Pro44Leu
NR_144351.2:n.814-177C>T