Canonical Allele Identifier: CA478112816

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1390964673
• gnomAD v2: 12-6440056-T-C
• gnomAD v4: 12-6330890-T-C
• MyVariant Identifiers: chr12:g.6440056T>C (hg19) ; chr12:g.6330890T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330890T>C , CM000674.2:g.6330890T>C	GRCh38
NC_000012.11:g.6440056T>C , CM000674.1:g.6440056T>C	GRCh37
NC_000012.10:g.6310317T>C	NCBI36
NG_007506.1:g.16206A>G , LRG_193:g.16206A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1689A>G
ENST00000437813.8:c.*49A>G	ENSP00000513672.1:n.*49A>G
ENST00000440083.7:c.807A>G	ENSP00000413224.3:p.Leu269=
ENST00000535038.2:n.770A>G
ENST00000535958.2:c.*415A>G	ENSP00000513673.1:n.*415A>G
ENST00000698337.1:n.437A>G
ENST00000698338.1:n.861A>G
ENST00000698339.1:c.*83A>G	ENSP00000513670.1:n.*83A>G
ENST00000698340.1:c.552-179A>G	ENSP00000513671.1:n.552-179A>G
ENST00000162749.7:c.588A>G MANE Select	ENSP00000162749.2:p.Leu196=
ENST00000162749.6:c.588A>G	ENSP00000162749.2:p.Leu196=
ENST00000534885.5:c.*65A>G	ENSP00000441803.1:n.*65A>G
ENST00000535038.1:n.258A>G
ENST00000536717.5:n.492A>G
ENST00000537842.5:n.192A>G
ENST00000539372.5:c.588A>G	ENSP00000442059.1:p.Leu196=
ENST00000540022.5:c.459A>G	ENSP00000438343.1:p.Leu153=
ENST00000543359.5:n.38-179A>G
ENST00000543995.5:c.*175A>G	ENSP00000442405.1:n.*175A>G
NM_001065.3:c.588A>G , LRG_193t1:c.588A>G	NP_001056.1:p.Leu196=
NM_001346091.1:c.264A>G	NP_001333020.1:p.Leu88=
NM_001346092.1:c.129A>G	NP_001333021.1:p.Leu43=
NR_144351.1:n.855-179A>G
NM_001065.4:c.588A>G MANE Select	NP_001056.1:p.Leu196=
NM_001346091.2:c.264A>G	NP_001333020.1:p.Leu88=
NM_001346092.2:c.129A>G	NP_001333021.1:p.Leu43=
NR_144351.2:n.814-179A>G