Canonical Allele Identifier: CA383548127

Gene: TNFRSF1A

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366159.9:n.1673G>C
ENST00000437813.8:c.*33G>C	ENSP00000513672.1:n.*33G>C
ENST00000440083.7:c.791G>C	ENSP00000413224.3:p.Cys264Ser
ENST00000535038.2:n.754G>C
ENST00000535958.2:c.*399G>C	ENSP00000513673.1:n.*399G>C
ENST00000698337.1:n.421G>C
ENST00000698338.1:n.845G>C
ENST00000698339.1:c.*67G>C	ENSP00000513670.1:n.*67G>C
ENST00000698340.1:c.552-195G>C	ENSP00000513671.1:n.552-195G>C
ENST00000162749.7:c.572G>C MANE Select	ENSP00000162749.2:p.Cys191Ser
ENST00000162749.6:c.572G>C	ENSP00000162749.2:p.Cys191Ser
ENST00000534885.5:c.*49G>C	ENSP00000441803.1:n.*49G>C
ENST00000535038.1:n.242G>C
ENST00000536717.5:n.476G>C
ENST00000537842.5:n.176G>C
ENST00000539372.5:c.572G>C	ENSP00000442059.1:p.Cys191Ser
ENST00000540022.5:c.443G>C	ENSP00000438343.1:p.Cys148Ser
ENST00000543359.5:n.38-195G>C
ENST00000543995.5:c.*159G>C	ENSP00000442405.1:n.*159G>C
NM_001065.3:c.572G>C , LRG_193t1:c.572G>C	NP_001056.1:p.Cys191Ser
NM_001346091.1:c.248G>C	NP_001333020.1:p.Cys83Ser
NM_001346092.1:c.113G>C	NP_001333021.1:p.Cys38Ser
NR_144351.1:n.855-195G>C
NM_001065.4:c.572G>C MANE Select	NP_001056.1:p.Cys191Ser
NM_001346091.2:c.248G>C	NP_001333020.1:p.Cys83Ser
NM_001346092.2:c.113G>C	NP_001333021.1:p.Cys38Ser
NR_144351.2:n.814-195G>C