Canonical Allele Identifier: CA383549010

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442247A>C (hg19) ; chr12:g.6333081A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333081A>C , CM000674.2:g.6333081A>C	GRCh38
NC_000012.11:g.6442247A>C , CM000674.1:g.6442247A>C	GRCh37
NC_000012.10:g.6312508A>C	NCBI36
NG_007506.1:g.14015T>G , LRG_193:g.14015T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.573T>G
ENST00000437813.8:c.539T>G	ENSP00000513672.1:p.Val180Gly
ENST00000440083.7:c.758T>G	ENSP00000413224.3:p.Val253Gly
ENST00000535958.2:c.*366T>G	ENSP00000513673.1:n.*366T>G
ENST00000698339.1:c.539T>G	ENSP00000513670.1:p.Val180Gly
ENST00000698340.1:c.539T>G	ENSP00000513671.1:p.Val180Gly
ENST00000162749.7:c.539T>G MANE Select	ENSP00000162749.2:p.Val180Gly
ENST00000162749.6:c.539T>G	ENSP00000162749.2:p.Val180Gly
ENST00000366159.8:c.539T>G	ENSP00000380389.3:p.Val180Gly
ENST00000437813.7:n.500T>G
ENST00000440083.6:c.758T>G	ENSP00000413224.2:p.Val253Gly
ENST00000534885.5:c.*16T>G	ENSP00000441803.1:n.*16T>G
ENST00000537842.5:n.143T>G
ENST00000539372.5:c.539T>G	ENSP00000442059.1:p.Val180Gly
ENST00000540022.5:c.410T>G	ENSP00000438343.1:p.Val137Gly
ENST00000543048.5:c.*150T>G	ENSP00000439981.1:n.*150T>G
ENST00000543359.5:n.25T>G
ENST00000543995.5:c.*126T>G	ENSP00000442405.1:n.*126T>G
NM_001065.3:c.539T>G , LRG_193t1:c.539T>G	NP_001056.1:p.Val180Gly
NM_001346091.1:c.215T>G	NP_001333020.1:p.Val72Gly
NM_001346092.1:c.-39T>G	NP_001333021.1:n.-39T>G
NR_144351.1:n.842T>G
NM_001065.4:c.539T>G MANE Select	NP_001056.1:p.Val180Gly
NM_001346091.2:c.215T>G	NP_001333020.1:p.Val72Gly
NM_001346092.2:c.-39T>G	NP_001333021.1:n.-39T>G
NR_144351.2:n.801T>G