Canonical Allele Identifier: CA390726357

Gene: TSHR

Linked Data

• dbSNP Id: rs1199376210
• COSMIC: COSM5382761
• MyVariant Identifiers: chr14:g.81609366C>T (hg19) ; chr14:g.81143022C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143022C>T , CM000676.2:g.81143022C>T	GRCh38
NC_000014.8:g.81609366C>T , CM000676.1:g.81609366C>T	GRCh37
NC_000014.7:g.80679119C>T	NCBI36
NG_009206.1:g.192498C>T , LRG_523:g.192498C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.964C>T MANE Select	ENSP00000298171.2:p.Leu322Phe
ENST00000636454.1:n.882C>T
ENST00000298171.6:c.964C>T	ENSP00000298171.2:p.Leu322Phe
ENST00000541158.6:c.964C>T	ENSP00000441235.2:p.Leu322Phe
NM_000369.2:c.964C>T , LRG_523t1:c.964C>T	NP_000360.2:p.Leu322Phe
XM_005268037.3:c.964C>T	XP_005268094.1:p.Leu322Phe
XM_011537119.1:c.685C>T	XP_011535421.1:p.Leu229Phe
XR_245790.3:n.2086+22171G>A
XR_429385.2:n.853+22171G>A
XR_429386.2:n.854+22171G>A
XR_944075.1:n.865+22171G>A
XR_944076.1:n.861+22171G>A
XR_944077.1:n.865+22171G>A
XR_944078.1:n.865+22171G>A
XR_944079.1:n.855+22171G>A
XM_005268037.4:c.964C>T	XP_005268094.1:p.Leu322Phe
XM_011537119.2:c.685C>T	XP_011535421.1:p.Leu229Phe
XR_001751021.1:n.2753+22171G>A
XR_001751022.1:n.2753+22171G>A
XR_001751023.1:n.2753+22171G>A
XR_944075.3:n.929+22171G>A
NM_000369.4:c.964C>T	NP_000360.2:p.Leu322Phe
NM_000369.5:c.964C>T MANE Select	NP_000360.2:p.Leu322Phe