Canonical Allele Identifier: CA383547796

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439851T>G (hg19) ; chr12:g.6330685T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330685T>G , CM000674.2:g.6330685T>G	GRCh38
NC_000012.11:g.6439851T>G , CM000674.1:g.6439851T>G	GRCh37
NC_000012.10:g.6310112T>G	NCBI36
NG_007506.1:g.16411A>C , LRG_193:g.16411A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1753A>C
ENST00000437813.8:c.*113A>C	ENSP00000513672.1:n.*113A>C
ENST00000440083.7:c.871A>C	ENSP00000413224.3:p.Ile291Leu
ENST00000535038.2:n.834A>C
ENST00000535958.2:c.*479A>C	ENSP00000513673.1:n.*479A>C
ENST00000698337.1:n.642A>C
ENST00000698338.1:n.1066A>C
ENST00000698339.1:c.*147A>C	ENSP00000513670.1:n.*147A>C
ENST00000698340.1:c.578A>C	ENSP00000513671.1:p.His193Pro
ENST00000162749.7:c.652A>C MANE Select	ENSP00000162749.2:p.Ile218Leu
ENST00000162749.6:c.652A>C	ENSP00000162749.2:p.Ile218Leu
ENST00000534885.5:c.*129A>C	ENSP00000441803.1:n.*129A>C
ENST00000535038.1:n.463A>C
ENST00000536717.5:n.556A>C
ENST00000537842.5:n.256A>C
ENST00000539372.5:c.652A>C	ENSP00000442059.1:p.Ile218Leu
ENST00000540022.5:c.523A>C	ENSP00000438343.1:p.Ile175Leu
ENST00000543359.5:n.64A>C
ENST00000543995.5:c.*239A>C	ENSP00000442405.1:n.*239A>C
NM_001065.3:c.652A>C , LRG_193t1:c.652A>C	NP_001056.1:p.Ile218Leu
NM_001346091.1:c.328A>C	NP_001333020.1:p.Ile110Leu
NM_001346092.1:c.193A>C	NP_001333021.1:p.Ile65Leu
NR_144351.1:n.881A>C
NM_001065.4:c.652A>C MANE Select	NP_001056.1:p.Ile218Leu
NM_001346091.2:c.328A>C	NP_001333020.1:p.Ile110Leu
NM_001346092.2:c.193A>C	NP_001333021.1:p.Ile65Leu
NR_144351.2:n.840A>C