Canonical Allele Identifier: CA383551719
Gene: TNFRSF1A HGNC NCBI

Linked Data

dbSNP Id: rs1555109224
gnomAD v2: 12-6450946-G-A
gnomAD v4: 12-6341780-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.6341780G>A , CM000674.2:g.6341780G>A GRCh38
NC_000012.11:g.6450946G>A , CM000674.1:g.6450946G>A GRCh37
NC_000012.10:g.6321207G>A NCBI36
NG_007506.1:g.5316C>T , LRG_193:g.5316C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000366159.9:n.69C>T
ENST00000437813.8:c.35C>T ENSP00000513672.1:p.Pro12Leu
ENST00000440083.7:c.35C>T ENSP00000413224.3:p.Pro12Leu
ENST00000535958.2:c.35C>T ENSP00000513673.1:p.Pro12Leu
ENST00000698339.1:c.35C>T ENSP00000513670.1:p.Pro12Leu
ENST00000698340.1:c.35C>T ENSP00000513671.1:p.Pro12Leu
ENST00000162749.7:c.35C>T MANE Select ENSP00000162749.2:p.Pro12Leu
ENST00000162749.6:c.35C>T ENSP00000162749.2:p.Pro12Leu
ENST00000366159.8:c.35C>T ENSP00000380389.3:p.Pro12Leu
ENST00000440083.6:c.35C>T ENSP00000413224.2:p.Pro12Leu
ENST00000534885.5:c.35C>T ENSP00000441803.1:p.Pro12Leu
ENST00000535958.1:n.256C>T
ENST00000536194.1:c.35C>T ENSP00000442919.1:p.Pro12Leu
ENST00000538363.1:n.225C>T
ENST00000539372.5:c.35C>T ENSP00000442059.1:p.Pro12Leu
ENST00000540022.5:c.35C>T ENSP00000438343.1:p.Pro12Leu
ENST00000543048.5:c.35C>T ENSP00000439981.1:p.Pro12Leu
ENST00000543995.5:c.35C>T ENSP00000442405.1:p.Pro12Leu
NM_001065.3:c.35C>T , LRG_193t1:c.35C>T NP_001056.1:p.Pro12Leu
NM_001346091.1:c.-136C>T NP_001333020.1:n.-136C>T
NM_001346092.1:c.-543C>T NP_001333021.1:n.-543C>T
NR_144351.1:n.338C>T
NM_001065.4:c.35C>T MANE Select NP_001056.1:p.Pro12Leu
NM_001346091.2:c.-136C>T NP_001333020.1:n.-136C>T
NM_001346092.2:c.-543C>T NP_001333021.1:n.-543C>T
NR_144351.2:n.297C>T