Canonical Allele Identifier: CA383545665

Gene: TNFRSF1A

Linked Data

• gnomAD v4: 12-6329822-A-G
• MyVariant Identifiers: chr12:g.6438988A>G (hg19) ; chr12:g.6329822A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6329822A>G , CM000674.2:g.6329822A>G	GRCh38
NC_000012.11:g.6438988A>G , CM000674.1:g.6438988A>G	GRCh37
NC_000012.10:g.6309249A>G	NCBI36
NG_007506.1:g.17274T>C , LRG_193:g.17274T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000366159.9:n.2114T>C
ENST00000437813.8:c.*474T>C	ENSP00000513672.1:n.*474T>C
ENST00000440083.7:c.1232T>C	ENSP00000413224.3:p.Leu411Pro
ENST00000535958.2:c.*840T>C	ENSP00000513673.1:n.*840T>C
ENST00000698337.1:n.974T>C
ENST00000698338.1:n.1627T>C
ENST00000698339.1:c.*508T>C	ENSP00000513670.1:n.*508T>C
ENST00000698340.1:c.*252T>C	ENSP00000513671.1:n.*252T>C
ENST00000162749.7:c.1013T>C MANE Select	ENSP00000162749.2:p.Leu338Pro
ENST00000162749.6:c.1013T>C	ENSP00000162749.2:p.Leu338Pro
ENST00000534885.5:c.*490T>C	ENSP00000441803.1:n.*490T>C
ENST00000536717.5:n.917T>C
ENST00000540022.5:c.884T>C	ENSP00000438343.1:p.Leu295Pro
ENST00000543359.5:n.425T>C
ENST00000543995.5:c.*600T>C	ENSP00000442405.1:n.*600T>C
NM_001065.3:c.1013T>C , LRG_193t1:c.1013T>C	NP_001056.1:p.Leu338Pro
NM_001346091.1:c.689T>C	NP_001333020.1:p.Leu230Pro
NM_001346092.1:c.554T>C	NP_001333021.1:p.Leu185Pro
NR_144351.1:n.1242T>C
NM_001065.4:c.1013T>C MANE Select	NP_001056.1:p.Leu338Pro
NM_001346091.2:c.689T>C	NP_001333020.1:p.Leu230Pro
NM_001346092.2:c.554T>C	NP_001333021.1:p.Leu185Pro
NR_144351.2:n.1201T>C