Canonical Allele Identifier: CA383547778

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439848A>C (hg19) ; chr12:g.6330682A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330682A>C , CM000674.2:g.6330682A>C	GRCh38
NC_000012.11:g.6439848A>C , CM000674.1:g.6439848A>C	GRCh37
NC_000012.10:g.6310109A>C	NCBI36
NG_007506.1:g.16414T>G , LRG_193:g.16414T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1756T>G
ENST00000437813.8:c.*116T>G	ENSP00000513672.1:n.*116T>G
ENST00000440083.7:c.874T>G	ENSP00000413224.3:p.Phe292Val
ENST00000535038.2:n.837T>G
ENST00000535958.2:c.*482T>G	ENSP00000513673.1:n.*482T>G
ENST00000698337.1:n.645T>G
ENST00000698338.1:n.1069T>G
ENST00000698339.1:c.*150T>G	ENSP00000513670.1:n.*150T>G
ENST00000698340.1:c.581T>G	ENSP00000513671.1:p.Phe194Cys
ENST00000162749.7:c.655T>G MANE Select	ENSP00000162749.2:p.Phe219Val
ENST00000162749.6:c.655T>G	ENSP00000162749.2:p.Phe219Val
ENST00000534885.5:c.*132T>G	ENSP00000441803.1:n.*132T>G
ENST00000535038.1:n.466T>G
ENST00000536717.5:n.559T>G
ENST00000537842.5:n.259T>G
ENST00000539372.5:c.655T>G	ENSP00000442059.1:p.Phe219Val
ENST00000540022.5:c.526T>G	ENSP00000438343.1:p.Phe176Val
ENST00000543359.5:n.67T>G
ENST00000543995.5:c.*242T>G	ENSP00000442405.1:n.*242T>G
NM_001065.3:c.655T>G , LRG_193t1:c.655T>G	NP_001056.1:p.Phe219Val
NM_001346091.1:c.331T>G	NP_001333020.1:p.Phe111Val
NM_001346092.1:c.196T>G	NP_001333021.1:p.Phe66Val
NR_144351.1:n.884T>G
NM_001065.4:c.655T>G MANE Select	NP_001056.1:p.Phe219Val
NM_001346091.2:c.331T>G	NP_001333020.1:p.Phe111Val
NM_001346092.2:c.196T>G	NP_001333021.1:p.Phe66Val
NR_144351.2:n.843T>G