Canonical Allele Identifier: CA383545642

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1347129615
• gnomAD v4: 12-6329811-C-T
• MyVariant Identifiers: chr12:g.6438977C>T (hg19) ; chr12:g.6329811C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329811C>T , CM000674.2:g.6329811C>T	GRCh38
NC_000012.11:g.6438977C>T , CM000674.1:g.6438977C>T	GRCh37
NC_000012.10:g.6309238C>T	NCBI36
NG_007506.1:g.17285G>A , LRG_193:g.17285G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2125G>A
ENST00000437813.8:c.*485G>A	ENSP00000513672.1:n.*485G>A
ENST00000440083.7:c.1243G>A	ENSP00000413224.3:p.Glu415Lys
ENST00000535958.2:c.*851G>A	ENSP00000513673.1:n.*851G>A
ENST00000698337.1:n.985G>A
ENST00000698338.1:n.1638G>A
ENST00000698339.1:c.*519G>A	ENSP00000513670.1:n.*519G>A
ENST00000698340.1:c.*263G>A	ENSP00000513671.1:n.*263G>A
ENST00000162749.7:c.1024G>A MANE Select	ENSP00000162749.2:p.Glu342Lys
ENST00000162749.6:c.1024G>A	ENSP00000162749.2:p.Glu342Lys
ENST00000534885.5:c.*501G>A	ENSP00000441803.1:n.*501G>A
ENST00000536717.5:n.928G>A
ENST00000540022.5:c.895G>A	ENSP00000438343.1:p.Glu299Lys
ENST00000543359.5:n.436G>A
ENST00000543995.5:c.*611G>A	ENSP00000442405.1:n.*611G>A
NM_001065.3:c.1024G>A , LRG_193t1:c.1024G>A	NP_001056.1:p.Glu342Lys
NM_001346091.1:c.700G>A	NP_001333020.1:p.Glu234Lys
NM_001346092.1:c.565G>A	NP_001333021.1:p.Glu189Lys
NR_144351.1:n.1253G>A
NM_001065.4:c.1024G>A MANE Select	NP_001056.1:p.Glu342Lys
NM_001346091.2:c.700G>A	NP_001333020.1:p.Glu234Lys
NM_001346092.2:c.565G>A	NP_001333021.1:p.Glu189Lys
NR_144351.2:n.1212G>A