Canonical Allele Identifier: CA383548032

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330881-A-C
• MyVariant Identifiers: chr12:g.6440047A>C (hg19) ; chr12:g.6330881A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330881A>C , CM000674.2:g.6330881A>C	GRCh38
NC_000012.11:g.6440047A>C , CM000674.1:g.6440047A>C	GRCh37
NC_000012.10:g.6310308A>C	NCBI36
NG_007506.1:g.16215T>G , LRG_193:g.16215T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1698T>G
ENST00000437813.8:c.*58T>G	ENSP00000513672.1:n.*58T>G
ENST00000440083.7:c.816T>G	ENSP00000413224.3:p.Ile272Met
ENST00000535038.2:n.779T>G
ENST00000535958.2:c.*424T>G	ENSP00000513673.1:n.*424T>G
ENST00000698337.1:n.446T>G
ENST00000698338.1:n.870T>G
ENST00000698339.1:c.*92T>G	ENSP00000513670.1:n.*92T>G
ENST00000698340.1:c.552-170T>G	ENSP00000513671.1:n.552-170T>G
ENST00000162749.7:c.597T>G MANE Select	ENSP00000162749.2:p.Ile199Met
ENST00000162749.6:c.597T>G	ENSP00000162749.2:p.Ile199Met
ENST00000534885.5:c.*74T>G	ENSP00000441803.1:n.*74T>G
ENST00000535038.1:n.267T>G
ENST00000536717.5:n.501T>G
ENST00000537842.5:n.201T>G
ENST00000539372.5:c.597T>G	ENSP00000442059.1:p.Ile199Met
ENST00000540022.5:c.468T>G	ENSP00000438343.1:p.Ile156Met
ENST00000543359.5:n.38-170T>G
ENST00000543995.5:c.*184T>G	ENSP00000442405.1:n.*184T>G
NM_001065.3:c.597T>G , LRG_193t1:c.597T>G	NP_001056.1:p.Ile199Met
NM_001346091.1:c.273T>G	NP_001333020.1:p.Ile91Met
NM_001346092.1:c.138T>G	NP_001333021.1:p.Ile46Met
NR_144351.1:n.855-170T>G
NM_001065.4:c.597T>G MANE Select	NP_001056.1:p.Ile199Met
NM_001346091.2:c.273T>G	NP_001333020.1:p.Ile91Met
NM_001346092.2:c.138T>G	NP_001333021.1:p.Ile46Met
NR_144351.2:n.814-170T>G