Canonical Allele Identifier: CA263936420

Gene: TSHR

Linked Data

• dbSNP Id: rs954170078
• gnomAD v2: 14-81610403-T-G
• MyVariant Identifiers: chr14:g.81610403T>G (hg19) ; chr14:g.81144059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144059T>G , CM000676.2:g.81144059T>G	GRCh38
NC_000014.8:g.81610403T>G , CM000676.1:g.81610403T>G	GRCh37
NC_000014.7:g.80680156T>G	NCBI36
NG_009206.1:g.193535T>G , LRG_523:g.193535T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2001T>G MANE Select	ENSP00000298171.2:p.Tyr667Ter
ENST00000637447.1:c.904T>G
ENST00000298171.6:c.2001T>G	ENSP00000298171.2:p.Tyr667Ter
ENST00000541158.6:c.2001T>G	ENSP00000441235.2:p.Tyr667Ter
NM_000369.2:c.2001T>G , LRG_523t1:c.2001T>G	NP_000360.2:p.Tyr667Ter
XM_005268037.3:c.2001T>G	XP_005268094.1:p.Tyr667Ter
XM_011537119.1:c.1722T>G	XP_011535421.1:p.Tyr574Ter
XR_245790.3:n.2086+21134A>C
XR_429385.2:n.853+21134A>C
XR_429386.2:n.854+21134A>C
XR_944075.1:n.865+21134A>C
XR_944076.1:n.861+21134A>C
XR_944077.1:n.865+21134A>C
XR_944078.1:n.865+21134A>C
XR_944079.1:n.855+21134A>C
XM_005268037.4:c.2001T>G	XP_005268094.1:p.Tyr667Ter
XM_011537119.2:c.1722T>G	XP_011535421.1:p.Tyr574Ter
XR_001751021.1:n.2753+21134A>C
XR_001751022.1:n.2753+21134A>C
XR_001751023.1:n.2753+21134A>C
XR_944075.3:n.929+21134A>C
NM_000369.4:c.2001T>G	NP_000360.2:p.Tyr667Ter
NM_000369.5:c.2001T>G MANE Select	NP_000360.2:p.Tyr667Ter