Canonical Allele Identifier: CA383548154

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440081C>A (hg19) ; chr12:g.6330915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330915C>A , CM000674.2:g.6330915C>A	GRCh38
NC_000012.11:g.6440081C>A , CM000674.1:g.6440081C>A	GRCh37
NC_000012.10:g.6310342C>A	NCBI36
NG_007506.1:g.16181G>T , LRG_193:g.16181G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1664G>T
ENST00000437813.8:c.*24G>T	ENSP00000513672.1:n.*24G>T
ENST00000440083.7:c.782G>T	ENSP00000413224.3:p.Ser261Ile
ENST00000535038.2:n.745G>T
ENST00000535958.2:c.*390G>T	ENSP00000513673.1:n.*390G>T
ENST00000698337.1:n.412G>T
ENST00000698338.1:n.836G>T
ENST00000698339.1:c.*58G>T	ENSP00000513670.1:n.*58G>T
ENST00000698340.1:c.552-204G>T	ENSP00000513671.1:n.552-204G>T
ENST00000162749.7:c.563G>T MANE Select	ENSP00000162749.2:p.Ser188Ile
ENST00000162749.6:c.563G>T	ENSP00000162749.2:p.Ser188Ile
ENST00000534885.5:c.*40G>T	ENSP00000441803.1:n.*40G>T
ENST00000535038.1:n.233G>T
ENST00000536717.5:n.467G>T
ENST00000537842.5:n.167G>T
ENST00000539372.5:c.563G>T	ENSP00000442059.1:p.Ser188Ile
ENST00000540022.5:c.434G>T	ENSP00000438343.1:p.Ser145Ile
ENST00000543359.5:n.38-204G>T
ENST00000543995.5:c.*150G>T	ENSP00000442405.1:n.*150G>T
NM_001065.3:c.563G>T , LRG_193t1:c.563G>T	NP_001056.1:p.Ser188Ile
NM_001346091.1:c.239G>T	NP_001333020.1:p.Ser80Ile
NM_001346092.1:c.104G>T	NP_001333021.1:p.Ser35Ile
NR_144351.1:n.855-204G>T
NM_001065.4:c.563G>T MANE Select	NP_001056.1:p.Ser188Ile
NM_001346091.2:c.239G>T	NP_001333020.1:p.Ser80Ile
NM_001346092.2:c.104G>T	NP_001333021.1:p.Ser35Ile
NR_144351.2:n.814-204G>T