Canonical Allele Identifier: CA383549931

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948077442
• MyVariant Identifiers: chr12:g.6442563G>C (hg19) ; chr12:g.6333397G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333397G>C , CM000674.2:g.6333397G>C	GRCh38
NC_000012.11:g.6442563G>C , CM000674.1:g.6442563G>C	GRCh37
NC_000012.10:g.6312824G>C	NCBI36
NG_007506.1:g.13699C>G , LRG_193:g.13699C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.476C>G
ENST00000437813.8:c.442C>G	ENSP00000513672.1:p.Leu148Val
ENST00000440083.7:c.442C>G	ENSP00000413224.3:p.Leu148Val
ENST00000535958.2:c.*269C>G	ENSP00000513673.1:n.*269C>G
ENST00000698339.1:c.442C>G	ENSP00000513670.1:p.Leu148Val
ENST00000698340.1:c.442C>G	ENSP00000513671.1:p.Leu148Val
ENST00000162749.7:c.442C>G MANE Select	ENSP00000162749.2:p.Leu148Val
ENST00000162749.6:c.442C>G	ENSP00000162749.2:p.Leu148Val
ENST00000366159.8:c.442C>G	ENSP00000380389.3:p.Leu148Val
ENST00000437813.7:n.403C>G
ENST00000440083.6:c.442C>G	ENSP00000413224.2:p.Leu148Val
ENST00000534885.5:c.288C>G	ENSP00000441803.1:p.Ala96=
ENST00000537842.5:n.46C>G
ENST00000539372.5:c.442C>G	ENSP00000442059.1:p.Leu148Val
ENST00000540022.5:c.313C>G	ENSP00000438343.1:p.Leu105Val
ENST00000543048.5:c.*53C>G	ENSP00000439981.1:n.*53C>G
ENST00000543995.5:c.*29C>G	ENSP00000442405.1:n.*29C>G
NM_001065.3:c.442C>G , LRG_193t1:c.442C>G	NP_001056.1:p.Leu148Val
NM_001346091.1:c.118C>G	NP_001333020.1:p.Leu40Val
NM_001346092.1:c.-136C>G	NP_001333021.1:n.-136C>G
NR_144351.1:n.745C>G
NM_001065.4:c.442C>G MANE Select	NP_001056.1:p.Leu148Val
NM_001346091.2:c.118C>G	NP_001333020.1:p.Leu40Val
NM_001346092.2:c.-136C>G	NP_001333021.1:n.-136C>G
NR_144351.2:n.704C>G