Canonical Allele Identifier: CA600846

Gene: TNFRSF1B

Linked Data

• dbSNP Id: rs780026833
• ExAC: 1:12253032 A / G
• gnomAD v2: 1-12253032-A-G
• gnomAD v3: 1-12192975-A-G
• gnomAD v4: 1-12192975-A-G
• MyVariant Identifiers: chr1:g.12253032A>G (hg19) ; chr1:g.12192975A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.12192975A>G , CM000663.2:g.12192975A>G	GRCh38
NC_000001.10:g.12253032A>G , CM000663.1:g.12253032A>G	GRCh37
NC_000001.9:g.12175619A>G	NCBI36
NG_029791.1:g.30973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376259.7:c.664A>G MANE Select	ENSP00000365435.3:p.Thr222Ala
ENST00000376259.6:c.664A>G	ENSP00000365435.3:p.Thr222Ala
ENST00000489921.1:n.376A>G
ENST00000492361.1:n.653A>G
NM_001066.2:c.664A>G	NP_001057.1:p.Thr222Ala
XM_011542060.1:c.664A>G	XP_011540362.1:p.Thr222Ala
XM_011542061.1:c.664A>G	XP_011540363.1:p.Thr222Ala
XM_011542062.1:c.643A>G	XP_011540364.1:p.Thr215Ala
XM_011542063.1:c.664A>G	XP_011540365.1:p.Thr222Ala
XM_011542060.2:c.664A>G	XP_011540362.1:p.Thr222Ala
XM_011542063.2:c.664A>G	XP_011540365.1:p.Thr222Ala
XM_017002211.1:c.664A>G	XP_016857700.1:p.Thr222Ala
XM_017002214.1:c.79A>G	XP_016857703.1:p.Thr27Ala
XM_017002215.1:c.79A>G	XP_016857704.1:p.Thr27Ala
NM_001066.3:c.664A>G MANE Select	NP_001057.1:p.Thr222Ala