Canonical Allele Identifier: CA383547787

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439850A>C (hg19) ; chr12:g.6330684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330684A>C , CM000674.2:g.6330684A>C	GRCh38
NC_000012.11:g.6439850A>C , CM000674.1:g.6439850A>C	GRCh37
NC_000012.10:g.6310111A>C	NCBI36
NG_007506.1:g.16412T>G , LRG_193:g.16412T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1754T>G
ENST00000437813.8:c.*114T>G	ENSP00000513672.1:n.*114T>G
ENST00000440083.7:c.872T>G	ENSP00000413224.3:p.Ile291Ser
ENST00000535038.2:n.835T>G
ENST00000535958.2:c.*480T>G	ENSP00000513673.1:n.*480T>G
ENST00000698337.1:n.643T>G
ENST00000698338.1:n.1067T>G
ENST00000698339.1:c.*148T>G	ENSP00000513670.1:n.*148T>G
ENST00000698340.1:c.579T>G	ENSP00000513671.1:p.His193Gln
ENST00000162749.7:c.653T>G MANE Select	ENSP00000162749.2:p.Ile218Ser
ENST00000162749.6:c.653T>G	ENSP00000162749.2:p.Ile218Ser
ENST00000534885.5:c.*130T>G	ENSP00000441803.1:n.*130T>G
ENST00000535038.1:n.464T>G
ENST00000536717.5:n.557T>G
ENST00000537842.5:n.257T>G
ENST00000539372.5:c.653T>G	ENSP00000442059.1:p.Ile218Ser
ENST00000540022.5:c.524T>G	ENSP00000438343.1:p.Ile175Ser
ENST00000543359.5:n.65T>G
ENST00000543995.5:c.*240T>G	ENSP00000442405.1:n.*240T>G
NM_001065.3:c.653T>G , LRG_193t1:c.653T>G	NP_001056.1:p.Ile218Ser
NM_001346091.1:c.329T>G	NP_001333020.1:p.Ile110Ser
NM_001346092.1:c.194T>G	NP_001333021.1:p.Ile65Ser
NR_144351.1:n.882T>G
NM_001065.4:c.653T>G MANE Select	NP_001056.1:p.Ile218Ser
NM_001346091.2:c.329T>G	NP_001333020.1:p.Ile110Ser
NM_001346092.2:c.194T>G	NP_001333021.1:p.Ile65Ser
NR_144351.2:n.841T>G