Canonical Allele Identifier: CA390729864

Gene: TSHR

Linked Data

• dbSNP Id: rs1891844286
• gnomAD v4: 14-81144270-G-A
• COSMIC: COSM5848617
• MyVariant Identifiers: chr14:g.81610614G>A (hg19) ; chr14:g.81144270G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144270G>A , CM000676.2:g.81144270G>A	GRCh38
NC_000014.8:g.81610614G>A , CM000676.1:g.81610614G>A	GRCh37
NC_000014.7:g.80680367G>A	NCBI36
NG_009206.1:g.193746G>A , LRG_523:g.193746G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2212G>A MANE Select	ENSP00000298171.2:p.Val738Ile
ENST00000637447.1:c.1115G>A
ENST00000298171.6:c.2212G>A	ENSP00000298171.2:p.Val738Ile
ENST00000541158.6:c.2212G>A	ENSP00000441235.2:p.Val738Ile
NM_000369.2:c.2212G>A , LRG_523t1:c.2212G>A	NP_000360.2:p.Val738Ile
XM_005268037.3:c.2212G>A	XP_005268094.1:p.Val738Ile
XM_011537119.1:c.1933G>A	XP_011535421.1:p.Val645Ile
XR_245790.3:n.2086+20923C>T
XR_429385.2:n.853+20923C>T
XR_429386.2:n.854+20923C>T
XR_944075.1:n.865+20923C>T
XR_944076.1:n.861+20923C>T
XR_944077.1:n.865+20923C>T
XR_944078.1:n.865+20923C>T
XR_944079.1:n.855+20923C>T
XM_005268037.4:c.2212G>A	XP_005268094.1:p.Val738Ile
XM_011537119.2:c.1933G>A	XP_011535421.1:p.Val645Ile
XR_001751021.1:n.2753+20923C>T
XR_001751022.1:n.2753+20923C>T
XR_001751023.1:n.2753+20923C>T
XR_944075.3:n.929+20923C>T
NM_000369.4:c.2212G>A	NP_000360.2:p.Val738Ile
NM_000369.5:c.2212G>A MANE Select	NP_000360.2:p.Val738Ile