Canonical Allele Identifier: CA280766

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 97669
• ClinVar RCV Id: RCV000083922
• dbSNP Id: rs104895220
• gnomAD v4: 12-6333817-C-T
• MyVariant Identifiers: chr12:g.6442983C>T (hg19) ; chr12:g.6333817C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333817C>T , CM000674.2:g.6333817C>T	GRCh38
NC_000012.11:g.6442983C>T , CM000674.1:g.6442983C>T	GRCh37
NC_000012.10:g.6313244C>T	NCBI36
NG_007506.1:g.13279G>A , LRG_193:g.13279G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.276G>A
ENST00000437813.8:c.242G>A	ENSP00000513672.1:p.Cys81Tyr
ENST00000440083.7:c.242G>A	ENSP00000413224.3:p.Cys81Tyr
ENST00000535958.2:c.*69G>A	ENSP00000513673.1:n.*69G>A
ENST00000698339.1:c.242G>A	ENSP00000513670.1:p.Cys81Tyr
ENST00000698340.1:c.242G>A	ENSP00000513671.1:p.Cys81Tyr
ENST00000162749.7:c.242G>A MANE Select	ENSP00000162749.2:p.Cys81Tyr
ENST00000162749.6:c.242G>A	ENSP00000162749.2:p.Cys81Tyr
ENST00000366159.8:c.242G>A	ENSP00000380389.3:p.Cys81Tyr
ENST00000437813.7:n.203G>A
ENST00000440083.6:c.242G>A	ENSP00000413224.2:p.Cys81Tyr
ENST00000534885.5:c.88G>A	ENSP00000441803.1:p.Ala30Thr
ENST00000535958.1:n.488G>A
ENST00000536194.1:c.215G>A	ENSP00000442919.1:p.Cys72Tyr
ENST00000539372.5:c.242G>A	ENSP00000442059.1:p.Cys81Tyr
ENST00000540022.5:c.193+274G>A	ENSP00000438343.1:n.193+274G>A
ENST00000543048.5:c.214+28G>A	ENSP00000439981.1:n.214+28G>A
ENST00000543995.5:c.193+274G>A	ENSP00000442405.1:n.193+274G>A
NM_001065.3:c.242G>A , LRG_193t1:c.242G>A	NP_001056.1:p.Cys81Tyr
NM_001346091.1:c.-83G>A	NP_001333020.1:n.-83G>A
NM_001346092.1:c.-336G>A	NP_001333021.1:n.-336G>A
NR_144351.1:n.545G>A
NM_001065.4:c.242G>A MANE Select	NP_001056.1:p.Cys81Tyr
NM_001346091.2:c.-83G>A	NP_001333020.1:n.-83G>A
NM_001346092.2:c.-336G>A	NP_001333021.1:n.-336G>A
NR_144351.2:n.504G>A