Canonical Allele Identifier: CA383550239

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6442650C>A (hg19) ; chr12:g.6333484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6333484C>A , CM000674.2:g.6333484C>A	GRCh38
NC_000012.11:g.6442650C>A , CM000674.1:g.6442650C>A	GRCh37
NC_000012.10:g.6312911C>A	NCBI36
NG_007506.1:g.13612G>T , LRG_193:g.13612G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.389G>T
ENST00000437813.8:c.355G>T	ENSP00000513672.1:p.Val119Leu
ENST00000440083.7:c.355G>T	ENSP00000413224.3:p.Val119Leu
ENST00000535958.2:c.*182G>T	ENSP00000513673.1:n.*182G>T
ENST00000698339.1:c.355G>T	ENSP00000513670.1:p.Val119Leu
ENST00000698340.1:c.355G>T	ENSP00000513671.1:p.Val119Leu
ENST00000162749.7:c.355G>T MANE Select	ENSP00000162749.2:p.Val119Leu
ENST00000162749.6:c.355G>T	ENSP00000162749.2:p.Val119Leu
ENST00000366159.8:c.355G>T	ENSP00000380389.3:p.Val119Leu
ENST00000437813.7:n.316G>T
ENST00000440083.6:c.355G>T	ENSP00000413224.2:p.Val119Leu
ENST00000534885.5:c.201G>T	ENSP00000441803.1:p.Gln67His
ENST00000536194.1:c.328G>T	ENSP00000442919.1:p.Val110Leu
ENST00000539372.5:c.355G>T	ENSP00000442059.1:p.Val119Leu
ENST00000540022.5:c.226G>T	ENSP00000438343.1:p.Val76Leu
ENST00000543048.5:c.215-33G>T	ENSP00000439981.1:n.215-33G>T
ENST00000543995.5:c.194-33G>T	ENSP00000442405.1:n.194-33G>T
NM_001065.3:c.355G>T , LRG_193t1:c.355G>T	NP_001056.1:p.Val119Leu
NM_001346091.1:c.31G>T	NP_001333020.1:p.Val11Leu
NM_001346092.1:c.-223G>T	NP_001333021.1:n.-223G>T
NR_144351.1:n.658G>T
NM_001065.4:c.355G>T MANE Select	NP_001056.1:p.Val119Leu
NM_001346091.2:c.31G>T	NP_001333020.1:p.Val11Leu
NM_001346092.2:c.-223G>T	NP_001333021.1:n.-223G>T
NR_144351.2:n.617G>T