Canonical Allele Identifier: CA383545643

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438978C>A (hg19) ; chr12:g.6329812C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329812C>A , CM000674.2:g.6329812C>A	GRCh38
NC_000012.11:g.6438978C>A , CM000674.1:g.6438978C>A	GRCh37
NC_000012.10:g.6309239C>A	NCBI36
NG_007506.1:g.17284G>T , LRG_193:g.17284G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2124G>T
ENST00000437813.8:c.*484G>T	ENSP00000513672.1:n.*484G>T
ENST00000440083.7:c.1242G>T	ENSP00000413224.3:p.Trp414Cys
ENST00000535958.2:c.*850G>T	ENSP00000513673.1:n.*850G>T
ENST00000698337.1:n.984G>T
ENST00000698338.1:n.1637G>T
ENST00000698339.1:c.*518G>T	ENSP00000513670.1:n.*518G>T
ENST00000698340.1:c.*262G>T	ENSP00000513671.1:n.*262G>T
ENST00000162749.7:c.1023G>T MANE Select	ENSP00000162749.2:p.Trp341Cys
ENST00000162749.6:c.1023G>T	ENSP00000162749.2:p.Trp341Cys
ENST00000534885.5:c.*500G>T	ENSP00000441803.1:n.*500G>T
ENST00000536717.5:n.927G>T
ENST00000540022.5:c.894G>T	ENSP00000438343.1:p.Trp298Cys
ENST00000543359.5:n.435G>T
ENST00000543995.5:c.*610G>T	ENSP00000442405.1:n.*610G>T
NM_001065.3:c.1023G>T , LRG_193t1:c.1023G>T	NP_001056.1:p.Trp341Cys
NM_001346091.1:c.699G>T	NP_001333020.1:p.Trp233Cys
NM_001346092.1:c.564G>T	NP_001333021.1:p.Trp188Cys
NR_144351.1:n.1252G>T
NM_001065.4:c.1023G>T MANE Select	NP_001056.1:p.Trp341Cys
NM_001346091.2:c.699G>T	NP_001333020.1:p.Trp233Cys
NM_001346092.2:c.564G>T	NP_001333021.1:p.Trp188Cys
NR_144351.2:n.1211G>T