Canonical Allele Identifier: CA390727814

Gene: TSHR

Linked Data

• dbSNP Id: rs2140111028
• MyVariant Identifiers: chr14:g.81609804C>A (hg19) ; chr14:g.81143460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143460C>A , CM000676.2:g.81143460C>A	GRCh38
NC_000014.8:g.81609804C>A , CM000676.1:g.81609804C>A	GRCh37
NC_000014.7:g.80679557C>A	NCBI36
NG_009206.1:g.192936C>A , LRG_523:g.192936C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1402C>A MANE Select	ENSP00000298171.2:p.Leu468Ile
ENST00000636454.1:n.1320C>A
ENST00000637447.1:c.305C>A
ENST00000298171.6:c.1402C>A	ENSP00000298171.2:p.Leu468Ile
ENST00000541158.6:c.1402C>A	ENSP00000441235.2:p.Leu468Ile
NM_000369.2:c.1402C>A , LRG_523t1:c.1402C>A	NP_000360.2:p.Leu468Ile
XM_005268037.3:c.1402C>A	XP_005268094.1:p.Leu468Ile
XM_011537119.1:c.1123C>A	XP_011535421.1:p.Leu375Ile
XR_245790.3:n.2086+21733G>T
XR_429385.2:n.853+21733G>T
XR_429386.2:n.854+21733G>T
XR_944075.1:n.865+21733G>T
XR_944076.1:n.861+21733G>T
XR_944077.1:n.865+21733G>T
XR_944078.1:n.865+21733G>T
XR_944079.1:n.855+21733G>T
XM_005268037.4:c.1402C>A	XP_005268094.1:p.Leu468Ile
XM_011537119.2:c.1123C>A	XP_011535421.1:p.Leu375Ile
XR_001751021.1:n.2753+21733G>T
XR_001751022.1:n.2753+21733G>T
XR_001751023.1:n.2753+21733G>T
XR_944075.3:n.929+21733G>T
NM_000369.4:c.1402C>A	NP_000360.2:p.Leu468Ile
NM_000369.5:c.1402C>A MANE Select	NP_000360.2:p.Leu468Ile