Canonical Allele Identifier: CA383549118

Gene: TNFRSF1A

Linked Data

• ClinVar Variation Id: 2319054
• ClinVar RCV Id: RCV002915384
• gnomAD v4: 12-6333127-C-G
• MyVariant Identifiers: chr12:g.6442293C>G (hg19) ; chr12:g.6333127C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333127C>G , CM000674.2:g.6333127C>G	GRCh38
NC_000012.11:g.6442293C>G , CM000674.1:g.6442293C>G	GRCh37
NC_000012.10:g.6312554C>G	NCBI36
NG_007506.1:g.13969G>C , LRG_193:g.13969G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.527G>C
ENST00000437813.8:c.493G>C	ENSP00000513672.1:p.Val165Leu
ENST00000440083.7:c.712G>C	ENSP00000413224.3:p.Val238Leu
ENST00000535958.2:c.*320G>C	ENSP00000513673.1:n.*320G>C
ENST00000698339.1:c.493G>C	ENSP00000513670.1:p.Val165Leu
ENST00000698340.1:c.493G>C	ENSP00000513671.1:p.Val165Leu
ENST00000162749.7:c.493G>C MANE Select	ENSP00000162749.2:p.Val165Leu
ENST00000162749.6:c.493G>C	ENSP00000162749.2:p.Val165Leu
ENST00000366159.8:c.493G>C	ENSP00000380389.3:p.Val165Leu
ENST00000437813.7:n.454G>C
ENST00000440083.6:c.712G>C	ENSP00000413224.2:p.Val238Leu
ENST00000534885.5:c.339G>C	ENSP00000441803.1:p.Pro113=
ENST00000537842.5:n.97G>C
ENST00000539372.5:c.493G>C	ENSP00000442059.1:p.Val165Leu
ENST00000540022.5:c.364G>C	ENSP00000438343.1:p.Val122Leu
ENST00000543048.5:c.*104G>C	ENSP00000439981.1:n.*104G>C
ENST00000543995.5:c.*80G>C	ENSP00000442405.1:n.*80G>C
NM_001065.3:c.493G>C , LRG_193t1:c.493G>C	NP_001056.1:p.Val165Leu
NM_001346091.1:c.169G>C	NP_001333020.1:p.Val57Leu
NM_001346092.1:c.-85G>C	NP_001333021.1:n.-85G>C
NR_144351.1:n.796G>C
NM_001065.4:c.493G>C MANE Select	NP_001056.1:p.Val165Leu
NM_001346091.2:c.169G>C	NP_001333020.1:p.Val57Leu
NM_001346092.2:c.-85G>C	NP_001333021.1:n.-85G>C
NR_144351.2:n.755G>C