Canonical Allele Identifier: CA383545676
Community Standard Title: NM_001065.4(TNFRSF1A):c.1008C>G (p.Asn336Lys)
Gene: TNFRSF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6329827G>C , CM000674.2:g.6329827G>C GRCh38
NC_000012.11:g.6438993G>C , CM000674.1:g.6438993G>C GRCh37
NC_000012.10:g.6309254G>C NCBI36
NG_007506.1:g.17269C>G , LRG_193:g.17269C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001065.4:c.1008C>G MANE Select NP_001056.1:p.Asn336Lys
ENST00000162749.7:c.1008C>G MANE Select ENSP00000162749.2:p.Asn336Lys
NM_001065.3:c.1008C>G , LRG_193t1:c.1008C>G NP_001056.1:p.Asn336Lys
NM_001346091.1:c.684C>G NP_001333020.1:p.Asn228Lys
NM_001346091.2:c.684C>G NP_001333020.1:p.Asn228Lys
NM_001346092.1:c.549C>G NP_001333021.1:p.Asn183Lys
NM_001346092.2:c.549C>G NP_001333021.1:p.Asn183Lys
NR_144351.1:n.1237C>G
NR_144351.2:n.1196C>G
ENST00000162749.6:c.1008C>G ENSP00000162749.2:p.Asn336Lys
ENST00000366159.9:n.2109C>G
ENST00000437813.8:c.*469C>G ENSP00000513672.1:n.*469C>G
ENST00000440083.7:c.1227C>G ENSP00000413224.3:p.Asn409Lys
ENST00000534885.5:c.*485C>G ENSP00000441803.1:n.*485C>G
ENST00000535958.2:c.*835C>G ENSP00000513673.1:n.*835C>G
ENST00000536717.5:n.912C>G
ENST00000540022.5:c.879C>G ENSP00000438343.1:p.Asn293Lys
ENST00000543359.5:n.420C>G
ENST00000543995.5:c.*595C>G ENSP00000442405.1:n.*595C>G
ENST00000698337.1:n.969C>G
ENST00000698338.1:n.1622C>G
ENST00000698339.1:c.*503C>G ENSP00000513670.1:n.*503C>G
ENST00000698340.1:c.*247C>G ENSP00000513671.1:n.*247C>G