Canonical Allele Identifier: CA383548102

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440065C>A (hg19) ; chr12:g.6330899C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330899C>A , CM000674.2:g.6330899C>A	GRCh38
NC_000012.11:g.6440065C>A , CM000674.1:g.6440065C>A	GRCh37
NC_000012.10:g.6310326C>A	NCBI36
NG_007506.1:g.16197G>T , LRG_193:g.16197G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1680G>T
ENST00000437813.8:c.*40G>T	ENSP00000513672.1:n.*40G>T
ENST00000440083.7:c.798G>T	ENSP00000413224.3:p.Lys266Asn
ENST00000535038.2:n.761G>T
ENST00000535958.2:c.*406G>T	ENSP00000513673.1:n.*406G>T
ENST00000698337.1:n.428G>T
ENST00000698338.1:n.852G>T
ENST00000698339.1:c.*74G>T	ENSP00000513670.1:n.*74G>T
ENST00000698340.1:c.552-188G>T	ENSP00000513671.1:n.552-188G>T
ENST00000162749.7:c.579G>T MANE Select	ENSP00000162749.2:p.Lys193Asn
ENST00000162749.6:c.579G>T	ENSP00000162749.2:p.Lys193Asn
ENST00000534885.5:c.*56G>T	ENSP00000441803.1:n.*56G>T
ENST00000535038.1:n.249G>T
ENST00000536717.5:n.483G>T
ENST00000537842.5:n.183G>T
ENST00000539372.5:c.579G>T	ENSP00000442059.1:p.Lys193Asn
ENST00000540022.5:c.450G>T	ENSP00000438343.1:p.Lys150Asn
ENST00000543359.5:n.38-188G>T
ENST00000543995.5:c.*166G>T	ENSP00000442405.1:n.*166G>T
NM_001065.3:c.579G>T , LRG_193t1:c.579G>T	NP_001056.1:p.Lys193Asn
NM_001346091.1:c.255G>T	NP_001333020.1:p.Lys85Asn
NM_001346092.1:c.120G>T	NP_001333021.1:p.Lys40Asn
NR_144351.1:n.855-188G>T
NM_001065.4:c.579G>T MANE Select	NP_001056.1:p.Lys193Asn
NM_001346091.2:c.255G>T	NP_001333020.1:p.Lys85Asn
NM_001346092.2:c.120G>T	NP_001333021.1:p.Lys40Asn
NR_144351.2:n.814-188G>T