Canonical Allele Identifier: CA383548189

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440089A>C (hg19) ; chr12:g.6330923A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330923A>C , CM000674.2:g.6330923A>C	GRCh38
NC_000012.11:g.6440089A>C , CM000674.1:g.6440089A>C	GRCh37
NC_000012.10:g.6310350A>C	NCBI36
NG_007506.1:g.16173T>G , LRG_193:g.16173T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1656T>G
ENST00000437813.8:c.*16T>G	ENSP00000513672.1:n.*16T>G
ENST00000440083.7:c.774T>G	ENSP00000413224.3:p.Cys258Trp
ENST00000535038.2:n.737T>G
ENST00000535958.2:c.*382T>G	ENSP00000513673.1:n.*382T>G
ENST00000698337.1:n.404T>G
ENST00000698338.1:n.828T>G
ENST00000698339.1:c.*50T>G	ENSP00000513670.1:n.*50T>G
ENST00000698340.1:c.552-212T>G	ENSP00000513671.1:n.552-212T>G
ENST00000162749.7:c.555T>G MANE Select	ENSP00000162749.2:p.Cys185Trp
ENST00000162749.6:c.555T>G	ENSP00000162749.2:p.Cys185Trp
ENST00000534885.5:c.*32T>G	ENSP00000441803.1:n.*32T>G
ENST00000535038.1:n.225T>G
ENST00000536717.5:n.459T>G
ENST00000537842.5:n.159T>G
ENST00000539372.5:c.555T>G	ENSP00000442059.1:p.Cys185Trp
ENST00000540022.5:c.426T>G	ENSP00000438343.1:p.Cys142Trp
ENST00000543359.5:n.38-212T>G
ENST00000543995.5:c.*142T>G	ENSP00000442405.1:n.*142T>G
NM_001065.3:c.555T>G , LRG_193t1:c.555T>G	NP_001056.1:p.Cys185Trp
NM_001346091.1:c.231T>G	NP_001333020.1:p.Cys77Trp
NM_001346092.1:c.96T>G	NP_001333021.1:p.Cys32Trp
NR_144351.1:n.855-212T>G
NM_001065.4:c.555T>G MANE Select	NP_001056.1:p.Cys185Trp
NM_001346091.2:c.231T>G	NP_001333020.1:p.Cys77Trp
NM_001346092.2:c.96T>G	NP_001333021.1:p.Cys32Trp
NR_144351.2:n.814-212T>G