Canonical Allele Identifier: CA478112209

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439774G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330608G>A , CM000674.2:g.6330608G>A	GRCh38
NC_000012.11:g.6439774G>A , CM000674.1:g.6439774G>A	GRCh37
NC_000012.10:g.6310035G>A	NCBI36
NG_007506.1:g.16488C>T , LRG_193:g.16488C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1830C>T
ENST00000437813.8:c.*190C>T	ENSP00000513672.1:n.*190C>T
ENST00000440083.7:c.948C>T	ENSP00000413224.3:p.Leu316=
ENST00000535038.2:n.911C>T
ENST00000535958.2:c.*556C>T	ENSP00000513673.1:n.*556C>T
ENST00000698337.1:n.719C>T
ENST00000698338.1:n.1143C>T
ENST00000698339.1:c.*224C>T	ENSP00000513670.1:n.*224C>T
ENST00000698340.1:c.655C>T	ENSP00000513671.1:p.Leu219=
ENST00000162749.7:c.729C>T MANE Select	ENSP00000162749.2:p.Leu243=
ENST00000162749.6:c.729C>T	ENSP00000162749.2:p.Leu243=
ENST00000534885.5:c.*206C>T	ENSP00000441803.1:n.*206C>T
ENST00000535038.1:n.540C>T
ENST00000536717.5:n.633C>T
ENST00000537842.5:n.333C>T
ENST00000539372.5:c.729C>T	ENSP00000442059.1:p.Leu243=
ENST00000540022.5:c.600C>T	ENSP00000438343.1:p.Leu200=
ENST00000543359.5:n.141C>T
ENST00000543995.5:c.*316C>T	ENSP00000442405.1:n.*316C>T
NM_001065.3:c.729C>T , LRG_193t1:c.729C>T	NP_001056.1:p.Leu243=
NM_001346091.1:c.405C>T	NP_001333020.1:p.Leu135=
NM_001346092.1:c.270C>T	NP_001333021.1:p.Leu90=
NR_144351.1:n.958C>T
NM_001065.4:c.729C>T MANE Select	NP_001056.1:p.Leu243=
NM_001346091.2:c.405C>T	NP_001333020.1:p.Leu135=
NM_001346092.2:c.270C>T	NP_001333021.1:p.Leu90=
NR_144351.2:n.917C>T