Canonical Allele Identifier: CA383549011

Gene: TNFRSF1A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.573T>C
ENST00000437813.8:c.539T>C	ENSP00000513672.1:p.Val180Ala
ENST00000440083.7:c.758T>C	ENSP00000413224.3:p.Val253Ala
ENST00000535958.2:c.*366T>C	ENSP00000513673.1:n.*366T>C
ENST00000698339.1:c.539T>C	ENSP00000513670.1:p.Val180Ala
ENST00000698340.1:c.539T>C	ENSP00000513671.1:p.Val180Ala
ENST00000162749.7:c.539T>C MANE Select	ENSP00000162749.2:p.Val180Ala
ENST00000162749.6:c.539T>C	ENSP00000162749.2:p.Val180Ala
ENST00000366159.8:c.539T>C	ENSP00000380389.3:p.Val180Ala
ENST00000437813.7:n.500T>C
ENST00000440083.6:c.758T>C	ENSP00000413224.2:p.Val253Ala
ENST00000534885.5:c.*16T>C	ENSP00000441803.1:n.*16T>C
ENST00000537842.5:n.143T>C
ENST00000539372.5:c.539T>C	ENSP00000442059.1:p.Val180Ala
ENST00000540022.5:c.410T>C	ENSP00000438343.1:p.Val137Ala
ENST00000543048.5:c.*150T>C	ENSP00000439981.1:n.*150T>C
ENST00000543359.5:n.25T>C
ENST00000543995.5:c.*126T>C	ENSP00000442405.1:n.*126T>C
NM_001065.3:c.539T>C , LRG_193t1:c.539T>C	NP_001056.1:p.Val180Ala
NM_001346091.1:c.215T>C	NP_001333020.1:p.Val72Ala
NM_001346092.1:c.-39T>C	NP_001333021.1:n.-39T>C
NR_144351.1:n.842T>C
NM_001065.4:c.539T>C MANE Select	NP_001056.1:p.Val180Ala
NM_001346091.2:c.215T>C	NP_001333020.1:p.Val72Ala
NM_001346092.2:c.-39T>C	NP_001333021.1:n.-39T>C
NR_144351.2:n.801T>C