Canonical Allele Identifier: CA383548172

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440085T>A (hg19) ; chr12:g.6330919T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330919T>A , CM000674.2:g.6330919T>A	GRCh38
NC_000012.11:g.6440085T>A , CM000674.1:g.6440085T>A	GRCh37
NC_000012.10:g.6310346T>A	NCBI36
NG_007506.1:g.16177A>T , LRG_193:g.16177A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1660A>T
ENST00000437813.8:c.*20A>T	ENSP00000513672.1:n.*20A>T
ENST00000440083.7:c.778A>T	ENSP00000413224.3:p.Lys260Ter
ENST00000535038.2:n.741A>T
ENST00000535958.2:c.*386A>T	ENSP00000513673.1:n.*386A>T
ENST00000698337.1:n.408A>T
ENST00000698338.1:n.832A>T
ENST00000698339.1:c.*54A>T	ENSP00000513670.1:n.*54A>T
ENST00000698340.1:c.552-208A>T	ENSP00000513671.1:n.552-208A>T
ENST00000162749.7:c.559A>T MANE Select	ENSP00000162749.2:p.Lys187Ter
ENST00000162749.6:c.559A>T	ENSP00000162749.2:p.Lys187Ter
ENST00000534885.5:c.*36A>T	ENSP00000441803.1:n.*36A>T
ENST00000535038.1:n.229A>T
ENST00000536717.5:n.463A>T
ENST00000537842.5:n.163A>T
ENST00000539372.5:c.559A>T	ENSP00000442059.1:p.Lys187Ter
ENST00000540022.5:c.430A>T	ENSP00000438343.1:p.Lys144Ter
ENST00000543359.5:n.38-208A>T
ENST00000543995.5:c.*146A>T	ENSP00000442405.1:n.*146A>T
NM_001065.3:c.559A>T , LRG_193t1:c.559A>T	NP_001056.1:p.Lys187Ter
NM_001346091.1:c.235A>T	NP_001333020.1:p.Lys79Ter
NM_001346092.1:c.100A>T	NP_001333021.1:p.Lys34Ter
NR_144351.1:n.855-208A>T
NM_001065.4:c.559A>T MANE Select	NP_001056.1:p.Lys187Ter
NM_001346091.2:c.235A>T	NP_001333020.1:p.Lys79Ter
NM_001346092.2:c.100A>T	NP_001333021.1:p.Lys34Ter
NR_144351.2:n.814-208A>T