Canonical Allele Identifier: CA478113083

Gene: TNFRSF1A

Linked Data

• dbSNP Id: rs1948070728
• MyVariant Identifiers: chr12:g.6442246G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333080G>T , CM000674.2:g.6333080G>T	GRCh38
NC_000012.11:g.6442246G>T , CM000674.1:g.6442246G>T	GRCh37
NC_000012.10:g.6312507G>T	NCBI36
NG_007506.1:g.14016C>A , LRG_193:g.14016C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.574C>A
ENST00000437813.8:c.540C>A	ENSP00000513672.1:p.Val180=
ENST00000440083.7:c.759C>A	ENSP00000413224.3:p.Val253=
ENST00000535958.2:c.*367C>A	ENSP00000513673.1:n.*367C>A
ENST00000698339.1:c.540C>A	ENSP00000513670.1:p.Val180=
ENST00000698340.1:c.540C>A	ENSP00000513671.1:p.Val180=
ENST00000162749.7:c.540C>A MANE Select	ENSP00000162749.2:p.Val180=
ENST00000162749.6:c.540C>A	ENSP00000162749.2:p.Val180=
ENST00000366159.8:c.540C>A	ENSP00000380389.3:p.Val180=
ENST00000437813.7:n.501C>A
ENST00000440083.6:c.759C>A	ENSP00000413224.2:p.Val253=
ENST00000534885.5:c.*17C>A	ENSP00000441803.1:n.*17C>A
ENST00000537842.5:n.144C>A
ENST00000539372.5:c.540C>A	ENSP00000442059.1:p.Val180=
ENST00000540022.5:c.411C>A	ENSP00000438343.1:p.Val137=
ENST00000543048.5:c.*151C>A	ENSP00000439981.1:n.*151C>A
ENST00000543359.5:n.26C>A
ENST00000543995.5:c.*127C>A	ENSP00000442405.1:n.*127C>A
NM_001065.3:c.540C>A , LRG_193t1:c.540C>A	NP_001056.1:p.Val180=
NM_001346091.1:c.216C>A	NP_001333020.1:p.Val72=
NM_001346092.1:c.-38C>A	NP_001333021.1:n.-38C>A
NR_144351.1:n.843C>A
NM_001065.4:c.540C>A MANE Select	NP_001056.1:p.Val180=
NM_001346091.2:c.216C>A	NP_001333020.1:p.Val72=
NM_001346092.2:c.-38C>A	NP_001333021.1:n.-38C>A
NR_144351.2:n.802C>A