Canonical Allele Identifier: CA383547662

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330652-A-G
• MyVariant Identifiers: chr12:g.6439818A>G (hg19) ; chr12:g.6330652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330652A>G , CM000674.2:g.6330652A>G	GRCh38
NC_000012.11:g.6439818A>G , CM000674.1:g.6439818A>G	GRCh37
NC_000012.10:g.6310079A>G	NCBI36
NG_007506.1:g.16444T>C , LRG_193:g.16444T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1786T>C
ENST00000437813.8:c.*146T>C	ENSP00000513672.1:n.*146T>C
ENST00000440083.7:c.904T>C	ENSP00000413224.3:p.Phe302Leu
ENST00000535038.2:n.867T>C
ENST00000535958.2:c.*512T>C	ENSP00000513673.1:n.*512T>C
ENST00000698337.1:n.675T>C
ENST00000698338.1:n.1099T>C
ENST00000698339.1:c.*180T>C	ENSP00000513670.1:n.*180T>C
ENST00000698340.1:c.611T>C	ENSP00000513671.1:p.Leu204Pro
ENST00000162749.7:c.685T>C MANE Select	ENSP00000162749.2:p.Phe229Leu
ENST00000162749.6:c.685T>C	ENSP00000162749.2:p.Phe229Leu
ENST00000534885.5:c.*162T>C	ENSP00000441803.1:n.*162T>C
ENST00000535038.1:n.496T>C
ENST00000536717.5:n.589T>C
ENST00000537842.5:n.289T>C
ENST00000539372.5:c.685T>C	ENSP00000442059.1:p.Phe229Leu
ENST00000540022.5:c.556T>C	ENSP00000438343.1:p.Phe186Leu
ENST00000543359.5:n.97T>C
ENST00000543995.5:c.*272T>C	ENSP00000442405.1:n.*272T>C
NM_001065.3:c.685T>C , LRG_193t1:c.685T>C	NP_001056.1:p.Phe229Leu
NM_001346091.1:c.361T>C	NP_001333020.1:p.Phe121Leu
NM_001346092.1:c.226T>C	NP_001333021.1:p.Phe76Leu
NR_144351.1:n.914T>C
NM_001065.4:c.685T>C MANE Select	NP_001056.1:p.Phe229Leu
NM_001346091.2:c.361T>C	NP_001333020.1:p.Phe121Leu
NM_001346092.2:c.226T>C	NP_001333021.1:p.Phe76Leu
NR_144351.2:n.873T>C