Canonical Allele Identifier: CA478112468

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439837A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330671A>G , CM000674.2:g.6330671A>G	GRCh38
NC_000012.11:g.6439837A>G , CM000674.1:g.6439837A>G	GRCh37
NC_000012.10:g.6310098A>G	NCBI36
NG_007506.1:g.16425T>C , LRG_193:g.16425T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1767T>C
ENST00000437813.8:c.*127T>C	ENSP00000513672.1:n.*127T>C
ENST00000440083.7:c.885T>C	ENSP00000413224.3:p.Leu295=
ENST00000535038.2:n.848T>C
ENST00000535958.2:c.*493T>C	ENSP00000513673.1:n.*493T>C
ENST00000698337.1:n.656T>C
ENST00000698338.1:n.1080T>C
ENST00000698339.1:c.*161T>C	ENSP00000513670.1:n.*161T>C
ENST00000698340.1:c.592T>C	ENSP00000513671.1:p.Leu198=
ENST00000162749.7:c.666T>C MANE Select	ENSP00000162749.2:p.Leu222=
ENST00000162749.6:c.666T>C	ENSP00000162749.2:p.Leu222=
ENST00000534885.5:c.*143T>C	ENSP00000441803.1:n.*143T>C
ENST00000535038.1:n.477T>C
ENST00000536717.5:n.570T>C
ENST00000537842.5:n.270T>C
ENST00000539372.5:c.666T>C	ENSP00000442059.1:p.Leu222=
ENST00000540022.5:c.537T>C	ENSP00000438343.1:p.Leu179=
ENST00000543359.5:n.78T>C
ENST00000543995.5:c.*253T>C	ENSP00000442405.1:n.*253T>C
NM_001065.3:c.666T>C , LRG_193t1:c.666T>C	NP_001056.1:p.Leu222=
NM_001346091.1:c.342T>C	NP_001333020.1:p.Leu114=
NM_001346092.1:c.207T>C	NP_001333021.1:p.Leu69=
NR_144351.1:n.895T>C
NM_001065.4:c.666T>C MANE Select	NP_001056.1:p.Leu222=
NM_001346091.2:c.342T>C	NP_001333020.1:p.Leu114=
NM_001346092.2:c.207T>C	NP_001333021.1:p.Leu69=
NR_144351.2:n.854T>C