Canonical Allele Identifier: CA383545652

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948013354
• MyVariant Identifiers: chr12:g.6438981C>G (hg19) ; chr12:g.6329815C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329815C>G , CM000674.2:g.6329815C>G	GRCh38
NC_000012.11:g.6438981C>G , CM000674.1:g.6438981C>G	GRCh37
NC_000012.10:g.6309242C>G	NCBI36
NG_007506.1:g.17281G>C , LRG_193:g.17281G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2121G>C
ENST00000437813.8:c.*481G>C	ENSP00000513672.1:n.*481G>C
ENST00000440083.7:c.1239G>C	ENSP00000413224.3:p.Lys413Asn
ENST00000535958.2:c.*847G>C	ENSP00000513673.1:n.*847G>C
ENST00000698337.1:n.981G>C
ENST00000698338.1:n.1634G>C
ENST00000698339.1:c.*515G>C	ENSP00000513670.1:n.*515G>C
ENST00000698340.1:c.*259G>C	ENSP00000513671.1:n.*259G>C
ENST00000162749.7:c.1020G>C MANE Select	ENSP00000162749.2:p.Lys340Asn
ENST00000162749.6:c.1020G>C	ENSP00000162749.2:p.Lys340Asn
ENST00000534885.5:c.*497G>C	ENSP00000441803.1:n.*497G>C
ENST00000536717.5:n.924G>C
ENST00000540022.5:c.891G>C	ENSP00000438343.1:p.Lys297Asn
ENST00000543359.5:n.432G>C
ENST00000543995.5:c.*607G>C	ENSP00000442405.1:n.*607G>C
NM_001065.3:c.1020G>C , LRG_193t1:c.1020G>C	NP_001056.1:p.Lys340Asn
NM_001346091.1:c.696G>C	NP_001333020.1:p.Lys232Asn
NM_001346092.1:c.561G>C	NP_001333021.1:p.Lys187Asn
NR_144351.1:n.1249G>C
NM_001065.4:c.1020G>C MANE Select	NP_001056.1:p.Lys340Asn
NM_001346091.2:c.696G>C	NP_001333020.1:p.Lys232Asn
NM_001346092.2:c.561G>C	NP_001333021.1:p.Lys187Asn
NR_144351.2:n.1208G>C