Canonical Allele Identifier: CA383548091

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6330896-C-A
• MyVariant Identifiers: chr12:g.6440062C>A (hg19) ; chr12:g.6330896C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330896C>A , CM000674.2:g.6330896C>A	GRCh38
NC_000012.11:g.6440062C>A , CM000674.1:g.6440062C>A	GRCh37
NC_000012.10:g.6310323C>A	NCBI36
NG_007506.1:g.16200G>T , LRG_193:g.16200G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1683G>T
ENST00000437813.8:c.*43G>T	ENSP00000513672.1:n.*43G>T
ENST00000440083.7:c.801G>T	ENSP00000413224.3:p.Leu267Phe
ENST00000535038.2:n.764G>T
ENST00000535958.2:c.*409G>T	ENSP00000513673.1:n.*409G>T
ENST00000698337.1:n.431G>T
ENST00000698338.1:n.855G>T
ENST00000698339.1:c.*77G>T	ENSP00000513670.1:n.*77G>T
ENST00000698340.1:c.552-185G>T	ENSP00000513671.1:n.552-185G>T
ENST00000162749.7:c.582G>T MANE Select	ENSP00000162749.2:p.Leu194Phe
ENST00000162749.6:c.582G>T	ENSP00000162749.2:p.Leu194Phe
ENST00000534885.5:c.*59G>T	ENSP00000441803.1:n.*59G>T
ENST00000535038.1:n.252G>T
ENST00000536717.5:n.486G>T
ENST00000537842.5:n.186G>T
ENST00000539372.5:c.582G>T	ENSP00000442059.1:p.Leu194Phe
ENST00000540022.5:c.453G>T	ENSP00000438343.1:p.Leu151Phe
ENST00000543359.5:n.38-185G>T
ENST00000543995.5:c.*169G>T	ENSP00000442405.1:n.*169G>T
NM_001065.3:c.582G>T , LRG_193t1:c.582G>T	NP_001056.1:p.Leu194Phe
NM_001346091.1:c.258G>T	NP_001333020.1:p.Leu86Phe
NM_001346092.1:c.123G>T	NP_001333021.1:p.Leu41Phe
NR_144351.1:n.855-185G>T
NM_001065.4:c.582G>T MANE Select	NP_001056.1:p.Leu194Phe
NM_001346091.2:c.258G>T	NP_001333020.1:p.Leu86Phe
NM_001346092.2:c.123G>T	NP_001333021.1:p.Leu41Phe
NR_144351.2:n.814-185G>T