Canonical Allele Identifier: CA383547966

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440025C>G (hg19) ; chr12:g.6330859C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330859C>G , CM000674.2:g.6330859C>G	GRCh38
NC_000012.11:g.6440025C>G , CM000674.1:g.6440025C>G	GRCh37
NC_000012.10:g.6310286C>G	NCBI36
NG_007506.1:g.16237G>C , LRG_193:g.16237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1720G>C
ENST00000437813.8:c.*80G>C	ENSP00000513672.1:n.*80G>C
ENST00000440083.7:c.838G>C	ENSP00000413224.3:p.Asp280His
ENST00000535038.2:n.801G>C
ENST00000535958.2:c.*446G>C	ENSP00000513673.1:n.*446G>C
ENST00000698337.1:n.468G>C
ENST00000698338.1:n.892G>C
ENST00000698339.1:c.*114G>C	ENSP00000513670.1:n.*114G>C
ENST00000698340.1:c.552-148G>C	ENSP00000513671.1:n.552-148G>C
ENST00000162749.7:c.619G>C MANE Select	ENSP00000162749.2:p.Asp207His
ENST00000162749.6:c.619G>C	ENSP00000162749.2:p.Asp207His
ENST00000534885.5:c.*96G>C	ENSP00000441803.1:n.*96G>C
ENST00000535038.1:n.289G>C
ENST00000536717.5:n.523G>C
ENST00000537842.5:n.223G>C
ENST00000539372.5:c.619G>C	ENSP00000442059.1:p.Asp207His
ENST00000540022.5:c.490G>C	ENSP00000438343.1:p.Asp164His
ENST00000543359.5:n.38-148G>C
ENST00000543995.5:c.*206G>C	ENSP00000442405.1:n.*206G>C
NM_001065.3:c.619G>C , LRG_193t1:c.619G>C	NP_001056.1:p.Asp207His
NM_001346091.1:c.295G>C	NP_001333020.1:p.Asp99His
NM_001346092.1:c.160G>C	NP_001333021.1:p.Asp54His
NR_144351.1:n.855-148G>C
NM_001065.4:c.619G>C MANE Select	NP_001056.1:p.Asp207His
NM_001346091.2:c.295G>C	NP_001333020.1:p.Asp99His
NM_001346092.2:c.160G>C	NP_001333021.1:p.Asp54His
NR_144351.2:n.814-148G>C