Canonical Allele Identifier: CA383545663

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6329820-G-T
• MyVariant Identifiers: chr12:g.6438986G>T (hg19) ; chr12:g.6329820G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329820G>T , CM000674.2:g.6329820G>T	GRCh38
NC_000012.11:g.6438986G>T , CM000674.1:g.6438986G>T	GRCh37
NC_000012.10:g.6309247G>T	NCBI36
NG_007506.1:g.17276C>A , LRG_193:g.17276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.2116C>A
ENST00000437813.8:c.*476C>A	ENSP00000513672.1:n.*476C>A
ENST00000440083.7:c.1234C>A	ENSP00000413224.3:p.Gln412Lys
ENST00000535958.2:c.*842C>A	ENSP00000513673.1:n.*842C>A
ENST00000698337.1:n.976C>A
ENST00000698338.1:n.1629C>A
ENST00000698339.1:c.*510C>A	ENSP00000513670.1:n.*510C>A
ENST00000698340.1:c.*254C>A	ENSP00000513671.1:n.*254C>A
ENST00000162749.7:c.1015C>A MANE Select	ENSP00000162749.2:p.Gln339Lys
ENST00000162749.6:c.1015C>A	ENSP00000162749.2:p.Gln339Lys
ENST00000534885.5:c.*492C>A	ENSP00000441803.1:n.*492C>A
ENST00000536717.5:n.919C>A
ENST00000540022.5:c.886C>A	ENSP00000438343.1:p.Gln296Lys
ENST00000543359.5:n.427C>A
ENST00000543995.5:c.*602C>A	ENSP00000442405.1:n.*602C>A
NM_001065.3:c.1015C>A , LRG_193t1:c.1015C>A	NP_001056.1:p.Gln339Lys
NM_001346091.1:c.691C>A	NP_001333020.1:p.Gln231Lys
NM_001346092.1:c.556C>A	NP_001333021.1:p.Gln186Lys
NR_144351.1:n.1244C>A
NM_001065.4:c.1015C>A MANE Select	NP_001056.1:p.Gln339Lys
NM_001346091.2:c.691C>A	NP_001333020.1:p.Gln231Lys
NM_001346092.2:c.556C>A	NP_001333021.1:p.Gln186Lys
NR_144351.2:n.1203C>A