Canonical Allele Identifier: CA383550501

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 846222
• ClinVar RCV Id: RCV001049470
• dbSNP Id: rs1948083279
• MyVariant Identifiers: chr12:g.6442945T>A (hg19) ; chr12:g.6333779T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333779T>A , CM000674.2:g.6333779T>A	GRCh38
NC_000012.11:g.6442945T>A , CM000674.1:g.6442945T>A	GRCh37
NC_000012.10:g.6313206T>A	NCBI36
NG_007506.1:g.13317A>T , LRG_193:g.13317A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.314A>T
ENST00000437813.8:c.280A>T	ENSP00000513672.1:p.Asn94Tyr
ENST00000440083.7:c.280A>T	ENSP00000413224.3:p.Asn94Tyr
ENST00000535958.2:c.*107A>T	ENSP00000513673.1:n.*107A>T
ENST00000698339.1:c.280A>T	ENSP00000513670.1:p.Asn94Tyr
ENST00000698340.1:c.280A>T	ENSP00000513671.1:p.Asn94Tyr
ENST00000162749.7:c.280A>T MANE Select	ENSP00000162749.2:p.Asn94Tyr
ENST00000162749.6:c.280A>T	ENSP00000162749.2:p.Asn94Tyr
ENST00000366159.8:c.280A>T	ENSP00000380389.3:p.Asn94Tyr
ENST00000437813.7:n.241A>T
ENST00000440083.6:c.280A>T	ENSP00000413224.2:p.Asn94Tyr
ENST00000534885.5:c.126A>T	ENSP00000441803.1:p.Lys42Asn
ENST00000535958.1:n.526A>T
ENST00000536194.1:c.253A>T	ENSP00000442919.1:p.Asn85Tyr
ENST00000539372.5:c.280A>T	ENSP00000442059.1:p.Asn94Tyr
ENST00000540022.5:c.194-263A>T	ENSP00000438343.1:n.194-263A>T
ENST00000543048.5:c.214+66A>T	ENSP00000439981.1:n.214+66A>T
ENST00000543995.5:c.193+312A>T	ENSP00000442405.1:n.193+312A>T
NM_001065.3:c.280A>T , LRG_193t1:c.280A>T	NP_001056.1:p.Asn94Tyr
NM_001346091.1:c.-45A>T	NP_001333020.1:n.-45A>T
NM_001346092.1:c.-298A>T	NP_001333021.1:n.-298A>T
NR_144351.1:n.583A>T
NM_001065.4:c.280A>T MANE Select	NP_001056.1:p.Asn94Tyr
NM_001346091.2:c.-45A>T	NP_001333020.1:n.-45A>T
NM_001346092.2:c.-298A>T	NP_001333021.1:n.-298A>T
NR_144351.2:n.542A>T