Canonical Allele Identifier: CA383547514

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439782A>C (hg19) ; chr12:g.6330616A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330616A>C , CM000674.2:g.6330616A>C	GRCh38
NC_000012.11:g.6439782A>C , CM000674.1:g.6439782A>C	GRCh37
NC_000012.10:g.6310043A>C	NCBI36
NG_007506.1:g.16480T>G , LRG_193:g.16480T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1822T>G
ENST00000437813.8:c.*182T>G	ENSP00000513672.1:n.*182T>G
ENST00000440083.7:c.940T>G	ENSP00000413224.3:p.Ser314Ala
ENST00000535038.2:n.903T>G
ENST00000535958.2:c.*548T>G	ENSP00000513673.1:n.*548T>G
ENST00000698337.1:n.711T>G
ENST00000698338.1:n.1135T>G
ENST00000698339.1:c.*216T>G	ENSP00000513670.1:n.*216T>G
ENST00000698340.1:c.647T>G	ENSP00000513671.1:p.Val216Gly
ENST00000162749.7:c.721T>G MANE Select	ENSP00000162749.2:p.Ser241Ala
ENST00000162749.6:c.721T>G	ENSP00000162749.2:p.Ser241Ala
ENST00000534885.5:c.*198T>G	ENSP00000441803.1:n.*198T>G
ENST00000535038.1:n.532T>G
ENST00000536717.5:n.625T>G
ENST00000537842.5:n.325T>G
ENST00000539372.5:c.721T>G	ENSP00000442059.1:p.Ser241Ala
ENST00000540022.5:c.592T>G	ENSP00000438343.1:p.Ser198Ala
ENST00000543359.5:n.133T>G
ENST00000543995.5:c.*308T>G	ENSP00000442405.1:n.*308T>G
NM_001065.3:c.721T>G , LRG_193t1:c.721T>G	NP_001056.1:p.Ser241Ala
NM_001346091.1:c.397T>G	NP_001333020.1:p.Ser133Ala
NM_001346092.1:c.262T>G	NP_001333021.1:p.Ser88Ala
NR_144351.1:n.950T>G
NM_001065.4:c.721T>G MANE Select	NP_001056.1:p.Ser241Ala
NM_001346091.2:c.397T>G	NP_001333020.1:p.Ser133Ala
NM_001346092.2:c.262T>G	NP_001333021.1:p.Ser88Ala
NR_144351.2:n.909T>G