Canonical Allele Identifier: CA383547531

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439785T>G (hg19) ; chr12:g.6330619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330619T>G , CM000674.2:g.6330619T>G	GRCh38
NC_000012.11:g.6439785T>G , CM000674.1:g.6439785T>G	GRCh37
NC_000012.10:g.6310046T>G	NCBI36
NG_007506.1:g.16477A>C , LRG_193:g.16477A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1819A>C
ENST00000437813.8:c.*179A>C	ENSP00000513672.1:n.*179A>C
ENST00000440083.7:c.937A>C	ENSP00000413224.3:p.Lys313Gln
ENST00000535038.2:n.900A>C
ENST00000535958.2:c.*545A>C	ENSP00000513673.1:n.*545A>C
ENST00000698337.1:n.708A>C
ENST00000698338.1:n.1132A>C
ENST00000698339.1:c.*213A>C	ENSP00000513670.1:n.*213A>C
ENST00000698340.1:c.644A>C	ENSP00000513671.1:p.Glu215Ala
ENST00000162749.7:c.718A>C MANE Select	ENSP00000162749.2:p.Lys240Gln
ENST00000162749.6:c.718A>C	ENSP00000162749.2:p.Lys240Gln
ENST00000534885.5:c.*195A>C	ENSP00000441803.1:n.*195A>C
ENST00000535038.1:n.529A>C
ENST00000536717.5:n.622A>C
ENST00000537842.5:n.322A>C
ENST00000539372.5:c.718A>C	ENSP00000442059.1:p.Lys240Gln
ENST00000540022.5:c.589A>C	ENSP00000438343.1:p.Lys197Gln
ENST00000543359.5:n.130A>C
ENST00000543995.5:c.*305A>C	ENSP00000442405.1:n.*305A>C
NM_001065.3:c.718A>C , LRG_193t1:c.718A>C	NP_001056.1:p.Lys240Gln
NM_001346091.1:c.394A>C	NP_001333020.1:p.Lys132Gln
NM_001346092.1:c.259A>C	NP_001333021.1:p.Lys87Gln
NR_144351.1:n.947A>C
NM_001065.4:c.718A>C MANE Select	NP_001056.1:p.Lys240Gln
NM_001346091.2:c.394A>C	NP_001333020.1:p.Lys132Gln
NM_001346092.2:c.259A>C	NP_001333021.1:p.Lys87Gln
NR_144351.2:n.906A>C