Canonical Allele Identifier: CA383548069

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440057A>T (hg19) ; chr12:g.6330891A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330891A>T , CM000674.2:g.6330891A>T	GRCh38
NC_000012.11:g.6440057A>T , CM000674.1:g.6440057A>T	GRCh37
NC_000012.10:g.6310318A>T	NCBI36
NG_007506.1:g.16205T>A , LRG_193:g.16205T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1688T>A
ENST00000437813.8:c.*48T>A	ENSP00000513672.1:n.*48T>A
ENST00000440083.7:c.806T>A	ENSP00000413224.3:p.Leu269Gln
ENST00000535038.2:n.769T>A
ENST00000535958.2:c.*414T>A	ENSP00000513673.1:n.*414T>A
ENST00000698337.1:n.436T>A
ENST00000698338.1:n.860T>A
ENST00000698339.1:c.*82T>A	ENSP00000513670.1:n.*82T>A
ENST00000698340.1:c.552-180T>A	ENSP00000513671.1:n.552-180T>A
ENST00000162749.7:c.587T>A MANE Select	ENSP00000162749.2:p.Leu196Gln
ENST00000162749.6:c.587T>A	ENSP00000162749.2:p.Leu196Gln
ENST00000534885.5:c.*64T>A	ENSP00000441803.1:n.*64T>A
ENST00000535038.1:n.257T>A
ENST00000536717.5:n.491T>A
ENST00000537842.5:n.191T>A
ENST00000539372.5:c.587T>A	ENSP00000442059.1:p.Leu196Gln
ENST00000540022.5:c.458T>A	ENSP00000438343.1:p.Leu153Gln
ENST00000543359.5:n.38-180T>A
ENST00000543995.5:c.*174T>A	ENSP00000442405.1:n.*174T>A
NM_001065.3:c.587T>A , LRG_193t1:c.587T>A	NP_001056.1:p.Leu196Gln
NM_001346091.1:c.263T>A	NP_001333020.1:p.Leu88Gln
NM_001346092.1:c.128T>A	NP_001333021.1:p.Leu43Gln
NR_144351.1:n.855-180T>A
NM_001065.4:c.587T>A MANE Select	NP_001056.1:p.Leu196Gln
NM_001346091.2:c.263T>A	NP_001333020.1:p.Leu88Gln
NM_001346092.2:c.128T>A	NP_001333021.1:p.Leu43Gln
NR_144351.2:n.814-180T>A