Canonical Allele Identifier: CA383545621

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6438970C>A (hg19) ; chr12:g.6329804C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329804C>A , CM000674.2:g.6329804C>A	GRCh38
NC_000012.11:g.6438970C>A , CM000674.1:g.6438970C>A	GRCh37
NC_000012.10:g.6309231C>A	NCBI36
NG_007506.1:g.17292G>T , LRG_193:g.17292G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2132G>T
ENST00000437813.8:c.*492G>T	ENSP00000513672.1:n.*492G>T
ENST00000440083.7:c.1250G>T	ENSP00000413224.3:p.Ser417Ile
ENST00000535958.2:c.*858G>T	ENSP00000513673.1:n.*858G>T
ENST00000698337.1:n.992G>T
ENST00000698338.1:n.1645G>T
ENST00000698339.1:c.*526G>T	ENSP00000513670.1:n.*526G>T
ENST00000698340.1:c.*270G>T	ENSP00000513671.1:n.*270G>T
ENST00000162749.7:c.1031G>T MANE Select	ENSP00000162749.2:p.Ser344Ile
ENST00000162749.6:c.1031G>T	ENSP00000162749.2:p.Ser344Ile
ENST00000534885.5:c.*508G>T	ENSP00000441803.1:n.*508G>T
ENST00000536717.5:n.935G>T
ENST00000540022.5:c.902G>T	ENSP00000438343.1:p.Ser301Ile
ENST00000543359.5:n.443G>T
ENST00000543995.5:c.*618G>T	ENSP00000442405.1:n.*618G>T
NM_001065.3:c.1031G>T , LRG_193t1:c.1031G>T	NP_001056.1:p.Ser344Ile
NM_001346091.1:c.707G>T	NP_001333020.1:p.Ser236Ile
NM_001346092.1:c.572G>T	NP_001333021.1:p.Ser191Ile
NR_144351.1:n.1260G>T
NM_001065.4:c.1031G>T MANE Select	NP_001056.1:p.Ser344Ile
NM_001346091.2:c.707G>T	NP_001333020.1:p.Ser236Ile
NM_001346092.2:c.572G>T	NP_001333021.1:p.Ser191Ile
NR_144351.2:n.1219G>T