Canonical Allele Identifier: CA383547713

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439833G>T (hg19) ; chr12:g.6330667G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330667G>T , CM000674.2:g.6330667G>T	GRCh38
NC_000012.11:g.6439833G>T , CM000674.1:g.6439833G>T	GRCh37
NC_000012.10:g.6310094G>T	NCBI36
NG_007506.1:g.16429C>A , LRG_193:g.16429C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1771C>A
ENST00000437813.8:c.*131C>A	ENSP00000513672.1:n.*131C>A
ENST00000440083.7:c.889C>A	ENSP00000413224.3:p.Leu297Ile
ENST00000535038.2:n.852C>A
ENST00000535958.2:c.*497C>A	ENSP00000513673.1:n.*497C>A
ENST00000698337.1:n.660C>A
ENST00000698338.1:n.1084C>A
ENST00000698339.1:c.*165C>A	ENSP00000513670.1:n.*165C>A
ENST00000698340.1:c.596C>A	ENSP00000513671.1:p.Pro199His
ENST00000162749.7:c.670C>A MANE Select	ENSP00000162749.2:p.Leu224Ile
ENST00000162749.6:c.670C>A	ENSP00000162749.2:p.Leu224Ile
ENST00000534885.5:c.*147C>A	ENSP00000441803.1:n.*147C>A
ENST00000535038.1:n.481C>A
ENST00000536717.5:n.574C>A
ENST00000537842.5:n.274C>A
ENST00000539372.5:c.670C>A	ENSP00000442059.1:p.Leu224Ile
ENST00000540022.5:c.541C>A	ENSP00000438343.1:p.Leu181Ile
ENST00000543359.5:n.82C>A
ENST00000543995.5:c.*257C>A	ENSP00000442405.1:n.*257C>A
NM_001065.3:c.670C>A , LRG_193t1:c.670C>A	NP_001056.1:p.Leu224Ile
NM_001346091.1:c.346C>A	NP_001333020.1:p.Leu116Ile
NM_001346092.1:c.211C>A	NP_001333021.1:p.Leu71Ile
NR_144351.1:n.899C>A
NM_001065.4:c.670C>A MANE Select	NP_001056.1:p.Leu224Ile
NM_001346091.2:c.346C>A	NP_001333020.1:p.Leu116Ile
NM_001346092.2:c.211C>A	NP_001333021.1:p.Leu71Ile
NR_144351.2:n.858C>A