Canonical Allele Identifier: CA383548040

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440049T>G (hg19) ; chr12:g.6330883T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330883T>G , CM000674.2:g.6330883T>G	GRCh38
NC_000012.11:g.6440049T>G , CM000674.1:g.6440049T>G	GRCh37
NC_000012.10:g.6310310T>G	NCBI36
NG_007506.1:g.16213A>C , LRG_193:g.16213A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1696A>C
ENST00000437813.8:c.*56A>C	ENSP00000513672.1:n.*56A>C
ENST00000440083.7:c.814A>C	ENSP00000413224.3:p.Ile272Leu
ENST00000535038.2:n.777A>C
ENST00000535958.2:c.*422A>C	ENSP00000513673.1:n.*422A>C
ENST00000698337.1:n.444A>C
ENST00000698338.1:n.868A>C
ENST00000698339.1:c.*90A>C	ENSP00000513670.1:n.*90A>C
ENST00000698340.1:c.552-172A>C	ENSP00000513671.1:n.552-172A>C
ENST00000162749.7:c.595A>C MANE Select	ENSP00000162749.2:p.Ile199Leu
ENST00000162749.6:c.595A>C	ENSP00000162749.2:p.Ile199Leu
ENST00000534885.5:c.*72A>C	ENSP00000441803.1:n.*72A>C
ENST00000535038.1:n.265A>C
ENST00000536717.5:n.499A>C
ENST00000537842.5:n.199A>C
ENST00000539372.5:c.595A>C	ENSP00000442059.1:p.Ile199Leu
ENST00000540022.5:c.466A>C	ENSP00000438343.1:p.Ile156Leu
ENST00000543359.5:n.38-172A>C
ENST00000543995.5:c.*182A>C	ENSP00000442405.1:n.*182A>C
NM_001065.3:c.595A>C , LRG_193t1:c.595A>C	NP_001056.1:p.Ile199Leu
NM_001346091.1:c.271A>C	NP_001333020.1:p.Ile91Leu
NM_001346092.1:c.136A>C	NP_001333021.1:p.Ile46Leu
NR_144351.1:n.855-172A>C
NM_001065.4:c.595A>C MANE Select	NP_001056.1:p.Ile199Leu
NM_001346091.2:c.271A>C	NP_001333020.1:p.Ile91Leu
NM_001346092.2:c.136A>C	NP_001333021.1:p.Ile46Leu
NR_144351.2:n.814-172A>C