Canonical Allele Identifier: CA383548026

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440045T>G (hg19) ; chr12:g.6330879T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330879T>G , CM000674.2:g.6330879T>G	GRCh38
NC_000012.11:g.6440045T>G , CM000674.1:g.6440045T>G	GRCh37
NC_000012.10:g.6310306T>G	NCBI36
NG_007506.1:g.16217A>C , LRG_193:g.16217A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1700A>C
ENST00000437813.8:c.*60A>C	ENSP00000513672.1:n.*60A>C
ENST00000440083.7:c.818A>C	ENSP00000413224.3:p.Glu273Ala
ENST00000535038.2:n.781A>C
ENST00000535958.2:c.*426A>C	ENSP00000513673.1:n.*426A>C
ENST00000698337.1:n.448A>C
ENST00000698338.1:n.872A>C
ENST00000698339.1:c.*94A>C	ENSP00000513670.1:n.*94A>C
ENST00000698340.1:c.552-168A>C	ENSP00000513671.1:n.552-168A>C
ENST00000162749.7:c.599A>C MANE Select	ENSP00000162749.2:p.Glu200Ala
ENST00000162749.6:c.599A>C	ENSP00000162749.2:p.Glu200Ala
ENST00000534885.5:c.*76A>C	ENSP00000441803.1:n.*76A>C
ENST00000535038.1:n.269A>C
ENST00000536717.5:n.503A>C
ENST00000537842.5:n.203A>C
ENST00000539372.5:c.599A>C	ENSP00000442059.1:p.Glu200Ala
ENST00000540022.5:c.470A>C	ENSP00000438343.1:p.Glu157Ala
ENST00000543359.5:n.38-168A>C
ENST00000543995.5:c.*186A>C	ENSP00000442405.1:n.*186A>C
NM_001065.3:c.599A>C , LRG_193t1:c.599A>C	NP_001056.1:p.Glu200Ala
NM_001346091.1:c.275A>C	NP_001333020.1:p.Glu92Ala
NM_001346092.1:c.140A>C	NP_001333021.1:p.Glu47Ala
NR_144351.1:n.855-168A>C
NM_001065.4:c.599A>C MANE Select	NP_001056.1:p.Glu200Ala
NM_001346091.2:c.275A>C	NP_001333020.1:p.Glu92Ala
NM_001346092.2:c.140A>C	NP_001333021.1:p.Glu47Ala
NR_144351.2:n.814-168A>C