Canonical Allele Identifier: CA383548126

Gene: TNFRSF1A

Linked Data

• MyVariant Identifiers: chr12:g.6440072C>A (hg19) ; chr12:g.6330906C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.6330906C>A , CM000674.2:g.6330906C>A	GRCh38
NC_000012.11:g.6440072C>A , CM000674.1:g.6440072C>A	GRCh37
NC_000012.10:g.6310333C>A	NCBI36
NG_007506.1:g.16190G>T , LRG_193:g.16190G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1673G>T
ENST00000437813.8:c.*33G>T	ENSP00000513672.1:n.*33G>T
ENST00000440083.7:c.791G>T	ENSP00000413224.3:p.Cys264Phe
ENST00000535038.2:n.754G>T
ENST00000535958.2:c.*399G>T	ENSP00000513673.1:n.*399G>T
ENST00000698337.1:n.421G>T
ENST00000698338.1:n.845G>T
ENST00000698339.1:c.*67G>T	ENSP00000513670.1:n.*67G>T
ENST00000698340.1:c.552-195G>T	ENSP00000513671.1:n.552-195G>T
ENST00000162749.7:c.572G>T MANE Select	ENSP00000162749.2:p.Cys191Phe
ENST00000162749.6:c.572G>T	ENSP00000162749.2:p.Cys191Phe
ENST00000534885.5:c.*49G>T	ENSP00000441803.1:n.*49G>T
ENST00000535038.1:n.242G>T
ENST00000536717.5:n.476G>T
ENST00000537842.5:n.176G>T
ENST00000539372.5:c.572G>T	ENSP00000442059.1:p.Cys191Phe
ENST00000540022.5:c.443G>T	ENSP00000438343.1:p.Cys148Phe
ENST00000543359.5:n.38-195G>T
ENST00000543995.5:c.*159G>T	ENSP00000442405.1:n.*159G>T
NM_001065.3:c.572G>T , LRG_193t1:c.572G>T	NP_001056.1:p.Cys191Phe
NM_001346091.1:c.248G>T	NP_001333020.1:p.Cys83Phe
NM_001346092.1:c.113G>T	NP_001333021.1:p.Cys38Phe
NR_144351.1:n.855-195G>T
NM_001065.4:c.572G>T MANE Select	NP_001056.1:p.Cys191Phe
NM_001346091.2:c.248G>T	NP_001333020.1:p.Cys83Phe
NM_001346092.2:c.113G>T	NP_001333021.1:p.Cys38Phe
NR_144351.2:n.814-195G>T