Canonical Allele Identifier: CA478113107

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1190718104
• gnomAD v2: 12-6442291-C-T
• MyVariant Identifiers: chr12:g.6442291C>T (hg19) ; chr12:g.6333125C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333125C>T , CM000674.2:g.6333125C>T	GRCh38
NC_000012.11:g.6442291C>T , CM000674.1:g.6442291C>T	GRCh37
NC_000012.10:g.6312552C>T	NCBI36
NG_007506.1:g.13971G>A , LRG_193:g.13971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.529G>A
ENST00000437813.8:c.495G>A	ENSP00000513672.1:p.Val165=
ENST00000440083.7:c.714G>A	ENSP00000413224.3:p.Val238=
ENST00000535958.2:c.*322G>A	ENSP00000513673.1:n.*322G>A
ENST00000698339.1:c.495G>A	ENSP00000513670.1:p.Val165=
ENST00000698340.1:c.495G>A	ENSP00000513671.1:p.Val165=
ENST00000162749.7:c.495G>A MANE Select	ENSP00000162749.2:p.Val165=
ENST00000162749.6:c.495G>A	ENSP00000162749.2:p.Val165=
ENST00000366159.8:c.495G>A	ENSP00000380389.3:p.Val165=
ENST00000437813.7:n.456G>A
ENST00000440083.6:c.714G>A	ENSP00000413224.2:p.Val238=
ENST00000534885.5:c.341G>A	ENSP00000441803.1:p.Cys114Tyr
ENST00000537842.5:n.99G>A
ENST00000539372.5:c.495G>A	ENSP00000442059.1:p.Val165=
ENST00000540022.5:c.366G>A	ENSP00000438343.1:p.Val122=
ENST00000543048.5:c.*106G>A	ENSP00000439981.1:n.*106G>A
ENST00000543995.5:c.*82G>A	ENSP00000442405.1:n.*82G>A
NM_001065.3:c.495G>A , LRG_193t1:c.495G>A	NP_001056.1:p.Val165=
NM_001346091.1:c.171G>A	NP_001333020.1:p.Val57=
NM_001346092.1:c.-83G>A	NP_001333021.1:n.-83G>A
NR_144351.1:n.798G>A
NM_001065.4:c.495G>A MANE Select	NP_001056.1:p.Val165=
NM_001346091.2:c.171G>A	NP_001333020.1:p.Val57=
NM_001346092.2:c.-83G>A	NP_001333021.1:n.-83G>A
NR_144351.2:n.757G>A