Canonical Allele Identifier: CA487340119

Gene: TSHR

Linked Data

• ClinVar Variation Id: 2758933
• ClinVar RCV Id: RCV003564478
• dbSNP Id: rs2139985304
• MyVariant Identifiers: chr14:g.81558935C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092591C>T , CM000676.2:g.81092591C>T	GRCh38
NC_000014.8:g.81558935C>T , CM000676.1:g.81558935C>T	GRCh37
NC_000014.7:g.80628688C>T	NCBI36
NG_009206.1:g.142067C>T , LRG_523:g.142067C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.528C>T MANE Select	ENSP00000298171.2:p.Cys176=
ENST00000636454.1:n.446C>T
ENST00000298171.6:c.528C>T	ENSP00000298171.2:p.Cys176=
ENST00000342443.10:c.528C>T	ENSP00000340113.6:p.Cys176=
ENST00000541158.6:c.528C>T	ENSP00000441235.2:p.Cys176=
ENST00000554263.5:c.528C>T	ENSP00000451202.1:p.Cys176=
ENST00000554435.1:c.528C>T	ENSP00000450549.1:p.Cys176=
NM_000369.2:c.528C>T , LRG_523t1:c.528C>T	NP_000360.2:p.Cys176=
NM_001018036.2:c.528C>T	NP_001018046.1:p.Cys176=
NM_001142626.2:c.528C>T	NP_001136098.1:p.Cys176=
XM_005268037.3:c.528C>T	XP_005268094.1:p.Cys176=
XM_005268039.1:c.528C>T	XP_005268096.1:p.Cys176=
XM_006720245.1:c.528C>T	XP_006720308.1:p.Cys176=
XM_011537119.1:c.249C>T	XP_011535421.1:p.Cys83=
XR_245790.3:n.2480+991G>A
XR_944075.1:n.1260-184G>A
XR_944076.1:n.1255+991G>A
XR_944077.1:n.1259+991G>A
XR_944078.1:n.1259+991G>A
XM_005268037.4:c.528C>T	XP_005268094.1:p.Cys176=
XM_011537119.2:c.249C>T	XP_011535421.1:p.Cys83=
XR_001751018.2:n.700-184G>A
XR_001751019.2:n.699+991G>A
XR_001751020.2:n.699+991G>A
XR_001751021.1:n.3148-184G>A
XR_001751022.1:n.3147+991G>A
XR_001751023.1:n.3280+991G>A
XR_001751024.2:n.700-184G>A
XR_944075.3:n.1324-184G>A
NM_000369.4:c.528C>T	NP_000360.2:p.Cys176=
NM_001018036.3:c.528C>T	NP_001018046.1:p.Cys176=
NM_001142626.3:c.528C>T	NP_001136098.1:p.Cys176=
NM_000369.5:c.528C>T MANE Select	NP_000360.2:p.Cys176=