Canonical Allele Identifier: CA383547503

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439779T>G (hg19) ; chr12:g.6330613T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330613T>G , CM000674.2:g.6330613T>G	GRCh38
NC_000012.11:g.6439779T>G , CM000674.1:g.6439779T>G	GRCh37
NC_000012.10:g.6310040T>G	NCBI36
NG_007506.1:g.16483A>C , LRG_193:g.16483A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1825A>C
ENST00000437813.8:c.*185A>C	ENSP00000513672.1:n.*185A>C
ENST00000440083.7:c.943A>C	ENSP00000413224.3:p.Lys315Gln
ENST00000535038.2:n.906A>C
ENST00000535958.2:c.*551A>C	ENSP00000513673.1:n.*551A>C
ENST00000698337.1:n.714A>C
ENST00000698338.1:n.1138A>C
ENST00000698339.1:c.*219A>C	ENSP00000513670.1:n.*219A>C
ENST00000698340.1:c.650A>C	ENSP00000513671.1:p.Gln217Pro
ENST00000162749.7:c.724A>C MANE Select	ENSP00000162749.2:p.Lys242Gln
ENST00000162749.6:c.724A>C	ENSP00000162749.2:p.Lys242Gln
ENST00000534885.5:c.*201A>C	ENSP00000441803.1:n.*201A>C
ENST00000535038.1:n.535A>C
ENST00000536717.5:n.628A>C
ENST00000537842.5:n.328A>C
ENST00000539372.5:c.724A>C	ENSP00000442059.1:p.Lys242Gln
ENST00000540022.5:c.595A>C	ENSP00000438343.1:p.Lys199Gln
ENST00000543359.5:n.136A>C
ENST00000543995.5:c.*311A>C	ENSP00000442405.1:n.*311A>C
NM_001065.3:c.724A>C , LRG_193t1:c.724A>C	NP_001056.1:p.Lys242Gln
NM_001346091.1:c.400A>C	NP_001333020.1:p.Lys134Gln
NM_001346092.1:c.265A>C	NP_001333021.1:p.Lys89Gln
NR_144351.1:n.953A>C
NM_001065.4:c.724A>C MANE Select	NP_001056.1:p.Lys242Gln
NM_001346091.2:c.400A>C	NP_001333020.1:p.Lys134Gln
NM_001346092.2:c.265A>C	NP_001333021.1:p.Lys89Gln
NR_144351.2:n.912A>C