Canonical Allele Identifier: CA383549048

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442262C>A (hg19) ; chr12:g.6333096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333096C>A , CM000674.2:g.6333096C>A	GRCh38
NC_000012.11:g.6442262C>A , CM000674.1:g.6442262C>A	GRCh37
NC_000012.10:g.6312523C>A	NCBI36
NG_007506.1:g.14000G>T , LRG_193:g.14000G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.558G>T
ENST00000437813.8:c.524G>T	ENSP00000513672.1:p.Arg175Ile
ENST00000440083.7:c.743G>T	ENSP00000413224.3:p.Arg248Ile
ENST00000535958.2:c.*351G>T	ENSP00000513673.1:n.*351G>T
ENST00000698339.1:c.524G>T	ENSP00000513670.1:p.Arg175Ile
ENST00000698340.1:c.524G>T	ENSP00000513671.1:p.Arg175Ile
ENST00000162749.7:c.524G>T MANE Select	ENSP00000162749.2:p.Arg175Ile
ENST00000162749.6:c.524G>T	ENSP00000162749.2:p.Arg175Ile
ENST00000366159.8:c.524G>T	ENSP00000380389.3:p.Arg175Ile
ENST00000437813.7:n.485G>T
ENST00000440083.6:c.743G>T	ENSP00000413224.2:p.Arg248Ile
ENST00000534885.5:c.*1G>T	ENSP00000441803.1:n.*1G>T
ENST00000537842.5:n.128G>T
ENST00000539372.5:c.524G>T	ENSP00000442059.1:p.Arg175Ile
ENST00000540022.5:c.395G>T	ENSP00000438343.1:p.Arg132Ile
ENST00000543048.5:c.*135G>T	ENSP00000439981.1:n.*135G>T
ENST00000543359.5:n.10G>T
ENST00000543995.5:c.*111G>T	ENSP00000442405.1:n.*111G>T
NM_001065.3:c.524G>T , LRG_193t1:c.524G>T	NP_001056.1:p.Arg175Ile
NM_001346091.1:c.200G>T	NP_001333020.1:p.Arg67Ile
NM_001346092.1:c.-54G>T	NP_001333021.1:n.-54G>T
NR_144351.1:n.827G>T
NM_001065.4:c.524G>T MANE Select	NP_001056.1:p.Arg175Ile
NM_001346091.2:c.200G>T	NP_001333020.1:p.Arg67Ile
NM_001346092.2:c.-54G>T	NP_001333021.1:n.-54G>T
NR_144351.2:n.786G>T