Canonical Allele Identifier: CA383547940

Gene: TNFRSF1A

Linked Data

• COSMIC: COSM468759
• MyVariant Identifiers: chr12:g.6440021G>A (hg19) ; chr12:g.6330855G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330855G>A , CM000674.2:g.6330855G>A	GRCh38
NC_000012.11:g.6440021G>A , CM000674.1:g.6440021G>A	GRCh37
NC_000012.10:g.6310282G>A	NCBI36
NG_007506.1:g.16241C>T , LRG_193:g.16241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1724C>T
ENST00000437813.8:c.*84C>T	ENSP00000513672.1:n.*84C>T
ENST00000440083.7:c.842C>T	ENSP00000413224.3:p.Ser281Leu
ENST00000535038.2:n.805C>T
ENST00000535958.2:c.*450C>T	ENSP00000513673.1:n.*450C>T
ENST00000698337.1:n.472C>T
ENST00000698338.1:n.896C>T
ENST00000698339.1:c.*118C>T	ENSP00000513670.1:n.*118C>T
ENST00000698340.1:c.552-144C>T	ENSP00000513671.1:n.552-144C>T
ENST00000162749.7:c.623C>T MANE Select	ENSP00000162749.2:p.Ser208Leu
ENST00000162749.6:c.623C>T	ENSP00000162749.2:p.Ser208Leu
ENST00000534885.5:c.*100C>T	ENSP00000441803.1:n.*100C>T
ENST00000535038.1:n.293C>T
ENST00000536717.5:n.527C>T
ENST00000537842.5:n.227C>T
ENST00000539372.5:c.623C>T	ENSP00000442059.1:p.Ser208Leu
ENST00000540022.5:c.494C>T	ENSP00000438343.1:p.Ser165Leu
ENST00000543359.5:n.38-144C>T
ENST00000543995.5:c.*210C>T	ENSP00000442405.1:n.*210C>T
NM_001065.3:c.623C>T , LRG_193t1:c.623C>T	NP_001056.1:p.Ser208Leu
NM_001346091.1:c.299C>T	NP_001333020.1:p.Ser100Leu
NM_001346092.1:c.164C>T	NP_001333021.1:p.Ser55Leu
NR_144351.1:n.855-144C>T
NM_001065.4:c.623C>T MANE Select	NP_001056.1:p.Ser208Leu
NM_001346091.2:c.299C>T	NP_001333020.1:p.Ser100Leu
NM_001346092.2:c.164C>T	NP_001333021.1:p.Ser55Leu
NR_144351.2:n.814-144C>T