Canonical Allele Identifier: CA383545648

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438979C>G (hg19) ; chr12:g.6329813C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329813C>G , CM000674.2:g.6329813C>G	GRCh38
NC_000012.11:g.6438979C>G , CM000674.1:g.6438979C>G	GRCh37
NC_000012.10:g.6309240C>G	NCBI36
NG_007506.1:g.17283G>C , LRG_193:g.17283G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2123G>C
ENST00000437813.8:c.*483G>C	ENSP00000513672.1:n.*483G>C
ENST00000440083.7:c.1241G>C	ENSP00000413224.3:p.Trp414Ser
ENST00000535958.2:c.*849G>C	ENSP00000513673.1:n.*849G>C
ENST00000698337.1:n.983G>C
ENST00000698338.1:n.1636G>C
ENST00000698339.1:c.*517G>C	ENSP00000513670.1:n.*517G>C
ENST00000698340.1:c.*261G>C	ENSP00000513671.1:n.*261G>C
ENST00000162749.7:c.1022G>C MANE Select	ENSP00000162749.2:p.Trp341Ser
ENST00000162749.6:c.1022G>C	ENSP00000162749.2:p.Trp341Ser
ENST00000534885.5:c.*499G>C	ENSP00000441803.1:n.*499G>C
ENST00000536717.5:n.926G>C
ENST00000540022.5:c.893G>C	ENSP00000438343.1:p.Trp298Ser
ENST00000543359.5:n.434G>C
ENST00000543995.5:c.*609G>C	ENSP00000442405.1:n.*609G>C
NM_001065.3:c.1022G>C , LRG_193t1:c.1022G>C	NP_001056.1:p.Trp341Ser
NM_001346091.1:c.698G>C	NP_001333020.1:p.Trp233Ser
NM_001346092.1:c.563G>C	NP_001333021.1:p.Trp188Ser
NR_144351.1:n.1251G>C
NM_001065.4:c.1022G>C MANE Select	NP_001056.1:p.Trp341Ser
NM_001346091.2:c.698G>C	NP_001333020.1:p.Trp233Ser
NM_001346092.2:c.563G>C	NP_001333021.1:p.Trp188Ser
NR_144351.2:n.1210G>C