Canonical Allele Identifier: CA965224262

Gene: TSHR

Linked Data

• dbSNP Id: rs1891797915
• gnomAD v3: 14-81143592-C-CT
• gnomAD v4: 14-81143592-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143593dup , CM000676.2:g.81143593dup	GRCh38
NC_000014.8:g.81609937dup , CM000676.1:g.81609937dup	GRCh37
NC_000014.7:g.80679690dup	NCBI36
NG_009206.1:g.193069dup , LRG_523:g.193069dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1535dup MANE Select	ENSP00000298171.2:p.Thr513AspfsTer?
ENST00000636454.1:n.1453dup
ENST00000637447.1:c.438dup
ENST00000298171.6:c.1535dup	ENSP00000298171.2:p.Thr513AspfsTer?
ENST00000541158.6:c.1535dup	ENSP00000441235.2:p.Thr513AspfsTer?
NM_000369.2:c.1535dup , LRG_523t1:c.1535dup	NP_000360.2:p.Thr513AspfsTer?
XM_005268037.3:c.1535dup	XP_005268094.1:p.Thr513AspfsTer?
XM_011537119.1:c.1256dup	XP_011535421.1:p.Thr420AspfsTer?
XR_245790.3:n.2086+21600dup
XR_429385.2:n.853+21600dup
XR_429386.2:n.854+21600dup
XR_944075.1:n.865+21600dup
XR_944076.1:n.861+21600dup
XR_944077.1:n.865+21600dup
XR_944078.1:n.865+21600dup
XR_944079.1:n.855+21600dup
XM_005268037.4:c.1535dup	XP_005268094.1:p.Thr513AspfsTer?
XM_011537119.2:c.1256dup	XP_011535421.1:p.Thr420AspfsTer?
XR_001751021.1:n.2753+21600dup
XR_001751022.1:n.2753+21600dup
XR_001751023.1:n.2753+21600dup
XR_944075.3:n.929+21600dup
NM_000369.4:c.1535dup	NP_000360.2:p.Thr513AspfsTer?
NM_000369.5:c.1535dup MANE Select	NP_000360.2:p.Thr513AspfsTer?