Canonical Allele Identifier: CA383547478

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6439775A>G (hg19) ; chr12:g.6330609A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330609A>G , CM000674.2:g.6330609A>G	GRCh38
NC_000012.11:g.6439775A>G , CM000674.1:g.6439775A>G	GRCh37
NC_000012.10:g.6310036A>G	NCBI36
NG_007506.1:g.16487T>C , LRG_193:g.16487T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1829T>C
ENST00000437813.8:c.*189T>C	ENSP00000513672.1:n.*189T>C
ENST00000440083.7:c.947T>C	ENSP00000413224.3:p.Leu316Pro
ENST00000535038.2:n.910T>C
ENST00000535958.2:c.*555T>C	ENSP00000513673.1:n.*555T>C
ENST00000698337.1:n.718T>C
ENST00000698338.1:n.1142T>C
ENST00000698339.1:c.*223T>C	ENSP00000513670.1:n.*223T>C
ENST00000698340.1:c.654T>C	ENSP00000513671.1:p.Ala218=
ENST00000162749.7:c.728T>C MANE Select	ENSP00000162749.2:p.Leu243Pro
ENST00000162749.6:c.728T>C	ENSP00000162749.2:p.Leu243Pro
ENST00000534885.5:c.*205T>C	ENSP00000441803.1:n.*205T>C
ENST00000535038.1:n.539T>C
ENST00000536717.5:n.632T>C
ENST00000537842.5:n.332T>C
ENST00000539372.5:c.728T>C	ENSP00000442059.1:p.Leu243Pro
ENST00000540022.5:c.599T>C	ENSP00000438343.1:p.Leu200Pro
ENST00000543359.5:n.140T>C
ENST00000543995.5:c.*315T>C	ENSP00000442405.1:n.*315T>C
NM_001065.3:c.728T>C , LRG_193t1:c.728T>C	NP_001056.1:p.Leu243Pro
NM_001346091.1:c.404T>C	NP_001333020.1:p.Leu135Pro
NM_001346092.1:c.269T>C	NP_001333021.1:p.Leu90Pro
NR_144351.1:n.957T>C
NM_001065.4:c.728T>C MANE Select	NP_001056.1:p.Leu243Pro
NM_001346091.2:c.404T>C	NP_001333020.1:p.Leu135Pro
NM_001346092.2:c.269T>C	NP_001333021.1:p.Leu90Pro
NR_144351.2:n.916T>C