Canonical Allele Identifier: CA383545659

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438985T>A (hg19) ; chr12:g.6329819T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329819T>A , CM000674.2:g.6329819T>A	GRCh38
NC_000012.11:g.6438985T>A , CM000674.1:g.6438985T>A	GRCh37
NC_000012.10:g.6309246T>A	NCBI36
NG_007506.1:g.17277A>T , LRG_193:g.17277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2117A>T
ENST00000437813.8:c.*477A>T	ENSP00000513672.1:n.*477A>T
ENST00000440083.7:c.1235A>T	ENSP00000413224.3:p.Gln412Leu
ENST00000535958.2:c.*843A>T	ENSP00000513673.1:n.*843A>T
ENST00000698337.1:n.977A>T
ENST00000698338.1:n.1630A>T
ENST00000698339.1:c.*511A>T	ENSP00000513670.1:n.*511A>T
ENST00000698340.1:c.*255A>T	ENSP00000513671.1:n.*255A>T
ENST00000162749.7:c.1016A>T MANE Select	ENSP00000162749.2:p.Gln339Leu
ENST00000162749.6:c.1016A>T	ENSP00000162749.2:p.Gln339Leu
ENST00000534885.5:c.*493A>T	ENSP00000441803.1:n.*493A>T
ENST00000536717.5:n.920A>T
ENST00000540022.5:c.887A>T	ENSP00000438343.1:p.Gln296Leu
ENST00000543359.5:n.428A>T
ENST00000543995.5:c.*603A>T	ENSP00000442405.1:n.*603A>T
NM_001065.3:c.1016A>T , LRG_193t1:c.1016A>T	NP_001056.1:p.Gln339Leu
NM_001346091.1:c.692A>T	NP_001333020.1:p.Gln231Leu
NM_001346092.1:c.557A>T	NP_001333021.1:p.Gln186Leu
NR_144351.1:n.1245A>T
NM_001065.4:c.1016A>T MANE Select	NP_001056.1:p.Gln339Leu
NM_001346091.2:c.692A>T	NP_001333020.1:p.Gln231Leu
NM_001346092.2:c.557A>T	NP_001333021.1:p.Gln186Leu
NR_144351.2:n.1204A>T