Canonical Allele Identifier: CA383547537

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439787C>A (hg19) ; chr12:g.6330621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330621C>A , CM000674.2:g.6330621C>A	GRCh38
NC_000012.11:g.6439787C>A , CM000674.1:g.6439787C>A	GRCh37
NC_000012.10:g.6310048C>A	NCBI36
NG_007506.1:g.16475G>T , LRG_193:g.16475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1817G>T
ENST00000437813.8:c.*177G>T	ENSP00000513672.1:n.*177G>T
ENST00000440083.7:c.935G>T	ENSP00000413224.3:p.Trp312Leu
ENST00000535038.2:n.898G>T
ENST00000535958.2:c.*543G>T	ENSP00000513673.1:n.*543G>T
ENST00000698337.1:n.706G>T
ENST00000698338.1:n.1130G>T
ENST00000698339.1:c.*211G>T	ENSP00000513670.1:n.*211G>T
ENST00000698340.1:c.642G>T	ENSP00000513671.1:p.Val214=
ENST00000162749.7:c.716G>T MANE Select	ENSP00000162749.2:p.Trp239Leu
ENST00000162749.6:c.716G>T	ENSP00000162749.2:p.Trp239Leu
ENST00000534885.5:c.*193G>T	ENSP00000441803.1:n.*193G>T
ENST00000535038.1:n.527G>T
ENST00000536717.5:n.620G>T
ENST00000537842.5:n.320G>T
ENST00000539372.5:c.716G>T	ENSP00000442059.1:p.Trp239Leu
ENST00000540022.5:c.587G>T	ENSP00000438343.1:p.Trp196Leu
ENST00000543359.5:n.128G>T
ENST00000543995.5:c.*303G>T	ENSP00000442405.1:n.*303G>T
NM_001065.3:c.716G>T , LRG_193t1:c.716G>T	NP_001056.1:p.Trp239Leu
NM_001346091.1:c.392G>T	NP_001333020.1:p.Trp131Leu
NM_001346092.1:c.257G>T	NP_001333021.1:p.Trp86Leu
NR_144351.1:n.945G>T
NM_001065.4:c.716G>T MANE Select	NP_001056.1:p.Trp239Leu
NM_001346091.2:c.392G>T	NP_001333020.1:p.Trp131Leu
NM_001346092.2:c.257G>T	NP_001333021.1:p.Trp86Leu
NR_144351.2:n.904G>T