Canonical Allele Identifier: CA383548165

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440083T>G (hg19) ; chr12:g.6330917T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330917T>G , CM000674.2:g.6330917T>G	GRCh38
NC_000012.11:g.6440083T>G , CM000674.1:g.6440083T>G	GRCh37
NC_000012.10:g.6310344T>G	NCBI36
NG_007506.1:g.16179A>C , LRG_193:g.16179A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1662A>C
ENST00000437813.8:c.*22A>C	ENSP00000513672.1:n.*22A>C
ENST00000440083.7:c.780A>C	ENSP00000413224.3:p.Lys260Asn
ENST00000535038.2:n.743A>C
ENST00000535958.2:c.*388A>C	ENSP00000513673.1:n.*388A>C
ENST00000698337.1:n.410A>C
ENST00000698338.1:n.834A>C
ENST00000698339.1:c.*56A>C	ENSP00000513670.1:n.*56A>C
ENST00000698340.1:c.552-206A>C	ENSP00000513671.1:n.552-206A>C
ENST00000162749.7:c.561A>C MANE Select	ENSP00000162749.2:p.Lys187Asn
ENST00000162749.6:c.561A>C	ENSP00000162749.2:p.Lys187Asn
ENST00000534885.5:c.*38A>C	ENSP00000441803.1:n.*38A>C
ENST00000535038.1:n.231A>C
ENST00000536717.5:n.465A>C
ENST00000537842.5:n.165A>C
ENST00000539372.5:c.561A>C	ENSP00000442059.1:p.Lys187Asn
ENST00000540022.5:c.432A>C	ENSP00000438343.1:p.Lys144Asn
ENST00000543359.5:n.38-206A>C
ENST00000543995.5:c.*148A>C	ENSP00000442405.1:n.*148A>C
NM_001065.3:c.561A>C , LRG_193t1:c.561A>C	NP_001056.1:p.Lys187Asn
NM_001346091.1:c.237A>C	NP_001333020.1:p.Lys79Asn
NM_001346092.1:c.102A>C	NP_001333021.1:p.Lys34Asn
NR_144351.1:n.855-206A>C
NM_001065.4:c.561A>C MANE Select	NP_001056.1:p.Lys187Asn
NM_001346091.2:c.237A>C	NP_001333020.1:p.Lys79Asn
NM_001346092.2:c.102A>C	NP_001333021.1:p.Lys34Asn
NR_144351.2:n.814-206A>C