Canonical Allele Identifier: CA383545847

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439066C>G (hg19) ; chr12:g.6329900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329900C>G , CM000674.2:g.6329900C>G	GRCh38
NC_000012.11:g.6439066C>G , CM000674.1:g.6439066C>G	GRCh37
NC_000012.10:g.6309327C>G	NCBI36
NG_007506.1:g.17196G>C , LRG_193:g.17196G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2036G>C
ENST00000437813.8:c.*396G>C	ENSP00000513672.1:n.*396G>C
ENST00000440083.7:c.1154G>C	ENSP00000413224.3:p.Arg385Thr
ENST00000535958.2:c.*762G>C	ENSP00000513673.1:n.*762G>C
ENST00000698337.1:n.896G>C
ENST00000698338.1:n.1549G>C
ENST00000698339.1:c.*430G>C	ENSP00000513670.1:n.*430G>C
ENST00000698340.1:c.*174G>C	ENSP00000513671.1:n.*174G>C
ENST00000162749.7:c.935G>C MANE Select	ENSP00000162749.2:p.Arg312Thr
ENST00000162749.6:c.935G>C	ENSP00000162749.2:p.Arg312Thr
ENST00000534885.5:c.*412G>C	ENSP00000441803.1:n.*412G>C
ENST00000536717.5:n.839G>C
ENST00000537842.5:n.373-1G>C
ENST00000540022.5:c.806G>C	ENSP00000438343.1:p.Arg269Thr
ENST00000543359.5:n.347G>C
ENST00000543995.5:c.*522G>C	ENSP00000442405.1:n.*522G>C
NM_001065.3:c.935G>C , LRG_193t1:c.935G>C	NP_001056.1:p.Arg312Thr
NM_001346091.1:c.611G>C	NP_001333020.1:p.Arg204Thr
NM_001346092.1:c.476G>C	NP_001333021.1:p.Arg159Thr
NR_144351.1:n.1164G>C
NM_001065.4:c.935G>C MANE Select	NP_001056.1:p.Arg312Thr
NM_001346091.2:c.611G>C	NP_001333020.1:p.Arg204Thr
NM_001346092.2:c.476G>C	NP_001333021.1:p.Arg159Thr
NR_144351.2:n.1123G>C