Canonical Allele Identifier: CA383547561

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439793T>G (hg19) ; chr12:g.6330627T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330627T>G , CM000674.2:g.6330627T>G	GRCh38
NC_000012.11:g.6439793T>G , CM000674.1:g.6439793T>G	GRCh37
NC_000012.10:g.6310054T>G	NCBI36
NG_007506.1:g.16469A>C , LRG_193:g.16469A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1811A>C
ENST00000437813.8:c.*171A>C	ENSP00000513672.1:n.*171A>C
ENST00000440083.7:c.929A>C	ENSP00000413224.3:p.Gln310Pro
ENST00000535038.2:n.892A>C
ENST00000535958.2:c.*537A>C	ENSP00000513673.1:n.*537A>C
ENST00000698337.1:n.700A>C
ENST00000698338.1:n.1124A>C
ENST00000698339.1:c.*205A>C	ENSP00000513670.1:n.*205A>C
ENST00000698340.1:c.636A>C	ENSP00000513671.1:p.Pro212=
ENST00000162749.7:c.710A>C MANE Select	ENSP00000162749.2:p.Gln237Pro
ENST00000162749.6:c.710A>C	ENSP00000162749.2:p.Gln237Pro
ENST00000534885.5:c.*187A>C	ENSP00000441803.1:n.*187A>C
ENST00000535038.1:n.521A>C
ENST00000536717.5:n.614A>C
ENST00000537842.5:n.314A>C
ENST00000539372.5:c.710A>C	ENSP00000442059.1:p.Gln237Pro
ENST00000540022.5:c.581A>C	ENSP00000438343.1:p.Gln194Pro
ENST00000543359.5:n.122A>C
ENST00000543995.5:c.*297A>C	ENSP00000442405.1:n.*297A>C
NM_001065.3:c.710A>C , LRG_193t1:c.710A>C	NP_001056.1:p.Gln237Pro
NM_001346091.1:c.386A>C	NP_001333020.1:p.Gln129Pro
NM_001346092.1:c.251A>C	NP_001333021.1:p.Gln84Pro
NR_144351.1:n.939A>C
NM_001065.4:c.710A>C MANE Select	NP_001056.1:p.Gln237Pro
NM_001346091.2:c.386A>C	NP_001333020.1:p.Gln129Pro
NM_001346092.2:c.251A>C	NP_001333021.1:p.Gln84Pro
NR_144351.2:n.898A>C