Canonical Allele Identifier: CA383548052

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440052G>T (hg19) ; chr12:g.6330886G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330886G>T , CM000674.2:g.6330886G>T	GRCh38
NC_000012.11:g.6440052G>T , CM000674.1:g.6440052G>T	GRCh37
NC_000012.10:g.6310313G>T	NCBI36
NG_007506.1:g.16210C>A , LRG_193:g.16210C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1693C>A
ENST00000437813.8:c.*53C>A	ENSP00000513672.1:n.*53C>A
ENST00000440083.7:c.811C>A	ENSP00000413224.3:p.Gln271Lys
ENST00000535038.2:n.774C>A
ENST00000535958.2:c.*419C>A	ENSP00000513673.1:n.*419C>A
ENST00000698337.1:n.441C>A
ENST00000698338.1:n.865C>A
ENST00000698339.1:c.*87C>A	ENSP00000513670.1:n.*87C>A
ENST00000698340.1:c.552-175C>A	ENSP00000513671.1:n.552-175C>A
ENST00000162749.7:c.592C>A MANE Select	ENSP00000162749.2:p.Gln198Lys
ENST00000162749.6:c.592C>A	ENSP00000162749.2:p.Gln198Lys
ENST00000534885.5:c.*69C>A	ENSP00000441803.1:n.*69C>A
ENST00000535038.1:n.262C>A
ENST00000536717.5:n.496C>A
ENST00000537842.5:n.196C>A
ENST00000539372.5:c.592C>A	ENSP00000442059.1:p.Gln198Lys
ENST00000540022.5:c.463C>A	ENSP00000438343.1:p.Gln155Lys
ENST00000543359.5:n.38-175C>A
ENST00000543995.5:c.*179C>A	ENSP00000442405.1:n.*179C>A
NM_001065.3:c.592C>A , LRG_193t1:c.592C>A	NP_001056.1:p.Gln198Lys
NM_001346091.1:c.268C>A	NP_001333020.1:p.Gln90Lys
NM_001346092.1:c.133C>A	NP_001333021.1:p.Gln45Lys
NR_144351.1:n.855-175C>A
NM_001065.4:c.592C>A MANE Select	NP_001056.1:p.Gln198Lys
NM_001346091.2:c.268C>A	NP_001333020.1:p.Gln90Lys
NM_001346092.2:c.133C>A	NP_001333021.1:p.Gln45Lys
NR_144351.2:n.814-175C>A