Canonical Allele Identifier: CA383550711

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6333842-G-T
• MyVariant Identifiers: chr12:g.6443008G>T (hg19) ; chr12:g.6333842G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333842G>T , CM000674.2:g.6333842G>T	GRCh38
NC_000012.11:g.6443008G>T , CM000674.1:g.6443008G>T	GRCh37
NC_000012.10:g.6313269G>T	NCBI36
NG_007506.1:g.13254C>A , LRG_193:g.13254C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.251C>A
ENST00000437813.8:c.217C>A	ENSP00000513672.1:p.Pro73Thr
ENST00000440083.7:c.217C>A	ENSP00000413224.3:p.Pro73Thr
ENST00000535958.2:c.*44C>A	ENSP00000513673.1:n.*44C>A
ENST00000698339.1:c.217C>A	ENSP00000513670.1:p.Pro73Thr
ENST00000698340.1:c.217C>A	ENSP00000513671.1:p.Pro73Thr
ENST00000162749.7:c.217C>A MANE Select	ENSP00000162749.2:p.Pro73Thr
ENST00000162749.6:c.217C>A	ENSP00000162749.2:p.Pro73Thr
ENST00000366159.8:c.217C>A	ENSP00000380389.3:p.Pro73Thr
ENST00000437813.7:n.178C>A
ENST00000440083.6:c.217C>A	ENSP00000413224.2:p.Pro73Thr
ENST00000534885.5:c.63C>A	ENSP00000441803.1:p.Val21=
ENST00000535958.1:n.463C>A
ENST00000536194.1:c.194-4C>A	ENSP00000442919.1:n.194-4C>A
ENST00000539372.5:c.217C>A	ENSP00000442059.1:p.Pro73Thr
ENST00000540022.5:c.193+249C>A	ENSP00000438343.1:n.193+249C>A
ENST00000543048.5:c.214+3C>A	ENSP00000439981.1:n.214+3C>A
ENST00000543995.5:c.193+249C>A	ENSP00000442405.1:n.193+249C>A
NM_001065.3:c.217C>A , LRG_193t1:c.217C>A	NP_001056.1:p.Pro73Thr
NM_001346091.1:c.-108C>A	NP_001333020.1:n.-108C>A
NM_001346092.1:c.-361C>A	NP_001333021.1:n.-361C>A
NR_144351.1:n.520C>A
NM_001065.4:c.217C>A MANE Select	NP_001056.1:p.Pro73Thr
NM_001346091.2:c.-108C>A	NP_001333020.1:n.-108C>A
NM_001346092.2:c.-361C>A	NP_001333021.1:n.-361C>A
NR_144351.2:n.479C>A