Canonical Allele Identifier: CA383547581

Gene: TNFRSF1A

Linked Data

• COSMIC: COSM3955052
• MyVariant Identifiers: chr12:g.6439799C>A (hg19) ; chr12:g.6330633C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330633C>A , CM000674.2:g.6330633C>A	GRCh38
NC_000012.11:g.6439799C>A , CM000674.1:g.6439799C>A	GRCh37
NC_000012.10:g.6310060C>A	NCBI36
NG_007506.1:g.16463G>T , LRG_193:g.16463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1805G>T
ENST00000437813.8:c.*165G>T	ENSP00000513672.1:n.*165G>T
ENST00000440083.7:c.923G>T	ENSP00000413224.3:p.Arg308Leu
ENST00000535038.2:n.886G>T
ENST00000535958.2:c.*531G>T	ENSP00000513673.1:n.*531G>T
ENST00000698337.1:n.694G>T
ENST00000698338.1:n.1118G>T
ENST00000698339.1:c.*199G>T	ENSP00000513670.1:n.*199G>T
ENST00000698340.1:c.630G>T	ENSP00000513671.1:p.Ser210=
ENST00000162749.7:c.704G>T MANE Select	ENSP00000162749.2:p.Arg235Leu
ENST00000162749.6:c.704G>T	ENSP00000162749.2:p.Arg235Leu
ENST00000534885.5:c.*181G>T	ENSP00000441803.1:n.*181G>T
ENST00000535038.1:n.515G>T
ENST00000536717.5:n.608G>T
ENST00000537842.5:n.308G>T
ENST00000539372.5:c.704G>T	ENSP00000442059.1:p.Arg235Leu
ENST00000540022.5:c.575G>T	ENSP00000438343.1:p.Arg192Leu
ENST00000543359.5:n.116G>T
ENST00000543995.5:c.*291G>T	ENSP00000442405.1:n.*291G>T
NM_001065.3:c.704G>T , LRG_193t1:c.704G>T	NP_001056.1:p.Arg235Leu
NM_001346091.1:c.380G>T	NP_001333020.1:p.Arg127Leu
NM_001346092.1:c.245G>T	NP_001333021.1:p.Arg82Leu
NR_144351.1:n.933G>T
NM_001065.4:c.704G>T MANE Select	NP_001056.1:p.Arg235Leu
NM_001346091.2:c.380G>T	NP_001333020.1:p.Arg127Leu
NM_001346092.2:c.245G>T	NP_001333021.1:p.Arg82Leu
NR_144351.2:n.892G>T