Canonical Allele Identifier: CA383549084

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333112-C-T
• MyVariant Identifiers: chr12:g.6442278C>T (hg19) ; chr12:g.6333112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333112C>T , CM000674.2:g.6333112C>T	GRCh38
NC_000012.11:g.6442278C>T , CM000674.1:g.6442278C>T	GRCh37
NC_000012.10:g.6312539C>T	NCBI36
NG_007506.1:g.13984G>A , LRG_193:g.13984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.542G>A
ENST00000437813.8:c.508G>A	ENSP00000513672.1:p.Ala170Thr
ENST00000440083.7:c.727G>A	ENSP00000413224.3:p.Ala243Thr
ENST00000535958.2:c.*335G>A	ENSP00000513673.1:n.*335G>A
ENST00000698339.1:c.508G>A	ENSP00000513670.1:p.Ala170Thr
ENST00000698340.1:c.508G>A	ENSP00000513671.1:p.Ala170Thr
ENST00000162749.7:c.508G>A MANE Select	ENSP00000162749.2:p.Ala170Thr
ENST00000162749.6:c.508G>A	ENSP00000162749.2:p.Ala170Thr
ENST00000366159.8:c.508G>A	ENSP00000380389.3:p.Ala170Thr
ENST00000437813.7:n.469G>A
ENST00000440083.6:c.727G>A	ENSP00000413224.2:p.Ala243Thr
ENST00000534885.5:c.354G>A	ENSP00000441803.1:p.Met118Ile
ENST00000537842.5:n.112G>A
ENST00000539372.5:c.508G>A	ENSP00000442059.1:p.Ala170Thr
ENST00000540022.5:c.379G>A	ENSP00000438343.1:p.Ala127Thr
ENST00000543048.5:c.*119G>A	ENSP00000439981.1:n.*119G>A
ENST00000543995.5:c.*95G>A	ENSP00000442405.1:n.*95G>A
NM_001065.3:c.508G>A , LRG_193t1:c.508G>A	NP_001056.1:p.Ala170Thr
NM_001346091.1:c.184G>A	NP_001333020.1:p.Ala62Thr
NM_001346092.1:c.-70G>A	NP_001333021.1:n.-70G>A
NR_144351.1:n.811G>A
NM_001065.4:c.508G>A MANE Select	NP_001056.1:p.Ala170Thr
NM_001346091.2:c.184G>A	NP_001333020.1:p.Ala62Thr
NM_001346092.2:c.-70G>A	NP_001333021.1:n.-70G>A
NR_144351.2:n.770G>A