Canonical Allele Identifier: CA383548113

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440067T>G (hg19) ; chr12:g.6330901T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330901T>G , CM000674.2:g.6330901T>G	GRCh38
NC_000012.11:g.6440067T>G , CM000674.1:g.6440067T>G	GRCh37
NC_000012.10:g.6310328T>G	NCBI36
NG_007506.1:g.16195A>C , LRG_193:g.16195A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1678A>C
ENST00000437813.8:c.*38A>C	ENSP00000513672.1:n.*38A>C
ENST00000440083.7:c.796A>C	ENSP00000413224.3:p.Lys266Gln
ENST00000535038.2:n.759A>C
ENST00000535958.2:c.*404A>C	ENSP00000513673.1:n.*404A>C
ENST00000698337.1:n.426A>C
ENST00000698338.1:n.850A>C
ENST00000698339.1:c.*72A>C	ENSP00000513670.1:n.*72A>C
ENST00000698340.1:c.552-190A>C	ENSP00000513671.1:n.552-190A>C
ENST00000162749.7:c.577A>C MANE Select	ENSP00000162749.2:p.Lys193Gln
ENST00000162749.6:c.577A>C	ENSP00000162749.2:p.Lys193Gln
ENST00000534885.5:c.*54A>C	ENSP00000441803.1:n.*54A>C
ENST00000535038.1:n.247A>C
ENST00000536717.5:n.481A>C
ENST00000537842.5:n.181A>C
ENST00000539372.5:c.577A>C	ENSP00000442059.1:p.Lys193Gln
ENST00000540022.5:c.448A>C	ENSP00000438343.1:p.Lys150Gln
ENST00000543359.5:n.38-190A>C
ENST00000543995.5:c.*164A>C	ENSP00000442405.1:n.*164A>C
NM_001065.3:c.577A>C , LRG_193t1:c.577A>C	NP_001056.1:p.Lys193Gln
NM_001346091.1:c.253A>C	NP_001333020.1:p.Lys85Gln
NM_001346092.1:c.118A>C	NP_001333021.1:p.Lys40Gln
NR_144351.1:n.855-190A>C
NM_001065.4:c.577A>C MANE Select	NP_001056.1:p.Lys193Gln
NM_001346091.2:c.253A>C	NP_001333020.1:p.Lys85Gln
NM_001346092.2:c.118A>C	NP_001333021.1:p.Lys40Gln
NR_144351.2:n.814-190A>C