Canonical Allele Identifier: CA383547552

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330625-G-A
• COSMIC: COSM5422870
• MyVariant Identifiers: chr12:g.6439791G>A (hg19) ; chr12:g.6330625G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330625G>A , CM000674.2:g.6330625G>A	GRCh38
NC_000012.11:g.6439791G>A , CM000674.1:g.6439791G>A	GRCh37
NC_000012.10:g.6310052G>A	NCBI36
NG_007506.1:g.16471C>T , LRG_193:g.16471C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1813C>T
ENST00000437813.8:c.*173C>T	ENSP00000513672.1:n.*173C>T
ENST00000440083.7:c.931C>T	ENSP00000413224.3:p.Arg311Trp
ENST00000535038.2:n.894C>T
ENST00000535958.2:c.*539C>T	ENSP00000513673.1:n.*539C>T
ENST00000698337.1:n.702C>T
ENST00000698338.1:n.1126C>T
ENST00000698339.1:c.*207C>T	ENSP00000513670.1:n.*207C>T
ENST00000698340.1:c.638C>T	ENSP00000513671.1:p.Thr213Met
ENST00000162749.7:c.712C>T MANE Select	ENSP00000162749.2:p.Arg238Trp
ENST00000162749.6:c.712C>T	ENSP00000162749.2:p.Arg238Trp
ENST00000534885.5:c.*189C>T	ENSP00000441803.1:n.*189C>T
ENST00000535038.1:n.523C>T
ENST00000536717.5:n.616C>T
ENST00000537842.5:n.316C>T
ENST00000539372.5:c.712C>T	ENSP00000442059.1:p.Arg238Trp
ENST00000540022.5:c.583C>T	ENSP00000438343.1:p.Arg195Trp
ENST00000543359.5:n.124C>T
ENST00000543995.5:c.*299C>T	ENSP00000442405.1:n.*299C>T
NM_001065.3:c.712C>T , LRG_193t1:c.712C>T	NP_001056.1:p.Arg238Trp
NM_001346091.1:c.388C>T	NP_001333020.1:p.Arg130Trp
NM_001346092.1:c.253C>T	NP_001333021.1:p.Arg85Trp
NR_144351.1:n.941C>T
NM_001065.4:c.712C>T MANE Select	NP_001056.1:p.Arg238Trp
NM_001346091.2:c.388C>T	NP_001333020.1:p.Arg130Trp
NM_001346092.2:c.253C>T	NP_001333021.1:p.Arg85Trp
NR_144351.2:n.900C>T