Canonical Allele Identifier: CA383545656

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438983T>G (hg19) ; chr12:g.6329817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329817T>G , CM000674.2:g.6329817T>G	GRCh38
NC_000012.11:g.6438983T>G , CM000674.1:g.6438983T>G	GRCh37
NC_000012.10:g.6309244T>G	NCBI36
NG_007506.1:g.17279A>C , LRG_193:g.17279A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2119A>C
ENST00000437813.8:c.*479A>C	ENSP00000513672.1:n.*479A>C
ENST00000440083.7:c.1237A>C	ENSP00000413224.3:p.Lys413Gln
ENST00000535958.2:c.*845A>C	ENSP00000513673.1:n.*845A>C
ENST00000698337.1:n.979A>C
ENST00000698338.1:n.1632A>C
ENST00000698339.1:c.*513A>C	ENSP00000513670.1:n.*513A>C
ENST00000698340.1:c.*257A>C	ENSP00000513671.1:n.*257A>C
ENST00000162749.7:c.1018A>C MANE Select	ENSP00000162749.2:p.Lys340Gln
ENST00000162749.6:c.1018A>C	ENSP00000162749.2:p.Lys340Gln
ENST00000534885.5:c.*495A>C	ENSP00000441803.1:n.*495A>C
ENST00000536717.5:n.922A>C
ENST00000540022.5:c.889A>C	ENSP00000438343.1:p.Lys297Gln
ENST00000543359.5:n.430A>C
ENST00000543995.5:c.*605A>C	ENSP00000442405.1:n.*605A>C
NM_001065.3:c.1018A>C , LRG_193t1:c.1018A>C	NP_001056.1:p.Lys340Gln
NM_001346091.1:c.694A>C	NP_001333020.1:p.Lys232Gln
NM_001346092.1:c.559A>C	NP_001333021.1:p.Lys187Gln
NR_144351.1:n.1247A>C
NM_001065.4:c.1018A>C MANE Select	NP_001056.1:p.Lys340Gln
NM_001346091.2:c.694A>C	NP_001333020.1:p.Lys232Gln
NM_001346092.2:c.559A>C	NP_001333021.1:p.Lys187Gln
NR_144351.2:n.1206A>C