Canonical Allele Identifier: CA383548145

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440076C>G (hg19) ; chr12:g.6330910C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330910C>G , CM000674.2:g.6330910C>G	GRCh38
NC_000012.11:g.6440076C>G , CM000674.1:g.6440076C>G	GRCh37
NC_000012.10:g.6310337C>G	NCBI36
NG_007506.1:g.16186G>C , LRG_193:g.16186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1669G>C
ENST00000437813.8:c.*29G>C	ENSP00000513672.1:n.*29G>C
ENST00000440083.7:c.787G>C	ENSP00000413224.3:p.Glu263Gln
ENST00000535038.2:n.750G>C
ENST00000535958.2:c.*395G>C	ENSP00000513673.1:n.*395G>C
ENST00000698337.1:n.417G>C
ENST00000698338.1:n.841G>C
ENST00000698339.1:c.*63G>C	ENSP00000513670.1:n.*63G>C
ENST00000698340.1:c.552-199G>C	ENSP00000513671.1:n.552-199G>C
ENST00000162749.7:c.568G>C MANE Select	ENSP00000162749.2:p.Glu190Gln
ENST00000162749.6:c.568G>C	ENSP00000162749.2:p.Glu190Gln
ENST00000534885.5:c.*45G>C	ENSP00000441803.1:n.*45G>C
ENST00000535038.1:n.238G>C
ENST00000536717.5:n.472G>C
ENST00000537842.5:n.172G>C
ENST00000539372.5:c.568G>C	ENSP00000442059.1:p.Glu190Gln
ENST00000540022.5:c.439G>C	ENSP00000438343.1:p.Glu147Gln
ENST00000543359.5:n.38-199G>C
ENST00000543995.5:c.*155G>C	ENSP00000442405.1:n.*155G>C
NM_001065.3:c.568G>C , LRG_193t1:c.568G>C	NP_001056.1:p.Glu190Gln
NM_001346091.1:c.244G>C	NP_001333020.1:p.Glu82Gln
NM_001346092.1:c.109G>C	NP_001333021.1:p.Glu37Gln
NR_144351.1:n.855-199G>C
NM_001065.4:c.568G>C MANE Select	NP_001056.1:p.Glu190Gln
NM_001346091.2:c.244G>C	NP_001333020.1:p.Glu82Gln
NM_001346092.2:c.109G>C	NP_001333021.1:p.Glu37Gln
NR_144351.2:n.814-199G>C