Canonical Allele Identifier: CA383549134

Gene: TNFRSF1A

Linked Data

• COSMIC: COSM4840003
• MyVariant Identifiers: chr12:g.6442300C>A (hg19) ; chr12:g.6333134C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333134C>A , CM000674.2:g.6333134C>A	GRCh38
NC_000012.11:g.6442300C>A , CM000674.1:g.6442300C>A	GRCh37
NC_000012.10:g.6312561C>A	NCBI36
NG_007506.1:g.13962G>T , LRG_193:g.13962G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.520G>T
ENST00000437813.8:c.486G>T	ENSP00000513672.1:p.Gln162His
ENST00000440083.7:c.705G>T	ENSP00000413224.3:p.Gln235His
ENST00000535958.2:c.*313G>T	ENSP00000513673.1:n.*313G>T
ENST00000698339.1:c.486G>T	ENSP00000513670.1:p.Gln162His
ENST00000698340.1:c.486G>T	ENSP00000513671.1:p.Gln162His
ENST00000162749.7:c.486G>T MANE Select	ENSP00000162749.2:p.Gln162His
ENST00000162749.6:c.486G>T	ENSP00000162749.2:p.Gln162His
ENST00000366159.8:c.486G>T	ENSP00000380389.3:p.Gln162His
ENST00000437813.7:n.447G>T
ENST00000440083.6:c.705G>T	ENSP00000413224.2:p.Gln235His
ENST00000534885.5:c.332G>T	ENSP00000441803.1:p.Arg111Ile
ENST00000537842.5:n.90G>T
ENST00000539372.5:c.486G>T	ENSP00000442059.1:p.Gln162His
ENST00000540022.5:c.357G>T	ENSP00000438343.1:p.Gln119His
ENST00000543048.5:c.*97G>T	ENSP00000439981.1:n.*97G>T
ENST00000543995.5:c.*73G>T	ENSP00000442405.1:n.*73G>T
NM_001065.3:c.486G>T , LRG_193t1:c.486G>T	NP_001056.1:p.Gln162His
NM_001346091.1:c.162G>T	NP_001333020.1:p.Gln54His
NM_001346092.1:c.-92G>T	NP_001333021.1:n.-92G>T
NR_144351.1:n.789G>T
NM_001065.4:c.486G>T MANE Select	NP_001056.1:p.Gln162His
NM_001346091.2:c.162G>T	NP_001333020.1:p.Gln54His
NM_001346092.2:c.-92G>T	NP_001333021.1:n.-92G>T
NR_144351.2:n.748G>T