Canonical Allele Identifier: CA383545668

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438989G>C (hg19) ; chr12:g.6329823G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329823G>C , CM000674.2:g.6329823G>C	GRCh38
NC_000012.11:g.6438989G>C , CM000674.1:g.6438989G>C	GRCh37
NC_000012.10:g.6309250G>C	NCBI36
NG_007506.1:g.17273C>G , LRG_193:g.17273C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2113C>G
ENST00000437813.8:c.*473C>G	ENSP00000513672.1:n.*473C>G
ENST00000440083.7:c.1231C>G	ENSP00000413224.3:p.Leu411Val
ENST00000535958.2:c.*839C>G	ENSP00000513673.1:n.*839C>G
ENST00000698337.1:n.973C>G
ENST00000698338.1:n.1626C>G
ENST00000698339.1:c.*507C>G	ENSP00000513670.1:n.*507C>G
ENST00000698340.1:c.*251C>G	ENSP00000513671.1:n.*251C>G
ENST00000162749.7:c.1012C>G MANE Select	ENSP00000162749.2:p.Leu338Val
ENST00000162749.6:c.1012C>G	ENSP00000162749.2:p.Leu338Val
ENST00000534885.5:c.*489C>G	ENSP00000441803.1:n.*489C>G
ENST00000536717.5:n.916C>G
ENST00000540022.5:c.883C>G	ENSP00000438343.1:p.Leu295Val
ENST00000543359.5:n.424C>G
ENST00000543995.5:c.*599C>G	ENSP00000442405.1:n.*599C>G
NM_001065.3:c.1012C>G , LRG_193t1:c.1012C>G	NP_001056.1:p.Leu338Val
NM_001346091.1:c.688C>G	NP_001333020.1:p.Leu230Val
NM_001346092.1:c.553C>G	NP_001333021.1:p.Leu185Val
NR_144351.1:n.1241C>G
NM_001065.4:c.1012C>G MANE Select	NP_001056.1:p.Leu338Val
NM_001346091.2:c.688C>G	NP_001333020.1:p.Leu230Val
NM_001346092.2:c.553C>G	NP_001333021.1:p.Leu185Val
NR_144351.2:n.1200C>G