Canonical Allele Identifier: CA478112355

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439809A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330643A>G , CM000674.2:g.6330643A>G	GRCh38
NC_000012.11:g.6439809A>G , CM000674.1:g.6439809A>G	GRCh37
NC_000012.10:g.6310070A>G	NCBI36
NG_007506.1:g.16453T>C , LRG_193:g.16453T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1795T>C
ENST00000437813.8:c.*155T>C	ENSP00000513672.1:n.*155T>C
ENST00000440083.7:c.913T>C	ENSP00000413224.3:p.Leu305=
ENST00000535038.2:n.876T>C
ENST00000535958.2:c.*521T>C	ENSP00000513673.1:n.*521T>C
ENST00000698337.1:n.684T>C
ENST00000698338.1:n.1108T>C
ENST00000698339.1:c.*189T>C	ENSP00000513670.1:n.*189T>C
ENST00000698340.1:c.620T>C	ENSP00000513671.1:p.Phe207Ser
ENST00000162749.7:c.694T>C MANE Select	ENSP00000162749.2:p.Leu232=
ENST00000162749.6:c.694T>C	ENSP00000162749.2:p.Leu232=
ENST00000534885.5:c.*171T>C	ENSP00000441803.1:n.*171T>C
ENST00000535038.1:n.505T>C
ENST00000536717.5:n.598T>C
ENST00000537842.5:n.298T>C
ENST00000539372.5:c.694T>C	ENSP00000442059.1:p.Leu232=
ENST00000540022.5:c.565T>C	ENSP00000438343.1:p.Leu189=
ENST00000543359.5:n.106T>C
ENST00000543995.5:c.*281T>C	ENSP00000442405.1:n.*281T>C
NM_001065.3:c.694T>C , LRG_193t1:c.694T>C	NP_001056.1:p.Leu232=
NM_001346091.1:c.370T>C	NP_001333020.1:p.Leu124=
NM_001346092.1:c.235T>C	NP_001333021.1:p.Leu79=
NR_144351.1:n.923T>C
NM_001065.4:c.694T>C MANE Select	NP_001056.1:p.Leu232=
NM_001346091.2:c.370T>C	NP_001333020.1:p.Leu124=
NM_001346092.2:c.235T>C	NP_001333021.1:p.Leu79=
NR_144351.2:n.882T>C