Canonical Allele Identifier: CA7294507

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2966081
• ClinVar RCV Id: RCV003820695
• dbSNP Id: rs762993768
• ExAC: 14:81610067 T / G
• gnomAD v2: 14-81610067-T-G
• gnomAD v4: 14-81143723-T-G
• MyVariant Identifiers: chr14:g.81610067T>G (hg19) ; chr14:g.81143723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143723T>G , CM000676.2:g.81143723T>G	GRCh38
NC_000014.8:g.81610067T>G , CM000676.1:g.81610067T>G	GRCh37
NC_000014.7:g.80679820T>G	NCBI36
NG_009206.1:g.193199T>G , LRG_523:g.193199T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1665T>G MANE Select	ENSP00000298171.2:p.Leu555=
ENST00000636454.1:n.1583T>G
ENST00000637447.1:c.568T>G
ENST00000298171.6:c.1665T>G	ENSP00000298171.2:p.Leu555=
ENST00000541158.6:c.1665T>G	ENSP00000441235.2:p.Leu555=
NM_000369.2:c.1665T>G , LRG_523t1:c.1665T>G	NP_000360.2:p.Leu555=
XM_005268037.3:c.1665T>G	XP_005268094.1:p.Leu555=
XM_011537119.1:c.1386T>G	XP_011535421.1:p.Leu462=
XR_245790.3:n.2086+21470A>C
XR_429385.2:n.853+21470A>C
XR_429386.2:n.854+21470A>C
XR_944075.1:n.865+21470A>C
XR_944076.1:n.861+21470A>C
XR_944077.1:n.865+21470A>C
XR_944078.1:n.865+21470A>C
XR_944079.1:n.855+21470A>C
XM_005268037.4:c.1665T>G	XP_005268094.1:p.Leu555=
XM_011537119.2:c.1386T>G	XP_011535421.1:p.Leu462=
XR_001751021.1:n.2753+21470A>C
XR_001751022.1:n.2753+21470A>C
XR_001751023.1:n.2753+21470A>C
XR_944075.3:n.929+21470A>C
NM_000369.4:c.1665T>G	NP_000360.2:p.Leu555=
NM_000369.5:c.1665T>G MANE Select	NP_000360.2:p.Leu555=