Canonical Allele Identifier: CA487340126

Gene: TSHR

Linked Data

• COSMIC: COSM1637314 ; COSM1637315
• MyVariant Identifiers: chr14:g.81558947G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81092603G>A , CM000676.2:g.81092603G>A	GRCh38
NC_000014.8:g.81558947G>A , CM000676.1:g.81558947G>A	GRCh37
NC_000014.7:g.80628700G>A	NCBI36
NG_009206.1:g.142079G>A , LRG_523:g.142079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.540G>A MANE Select	ENSP00000298171.2:p.Leu180=
ENST00000636454.1:n.458G>A
ENST00000298171.6:c.540G>A	ENSP00000298171.2:p.Leu180=
ENST00000342443.10:c.540G>A	ENSP00000340113.6:p.Leu180=
ENST00000541158.6:c.540G>A	ENSP00000441235.2:p.Leu180=
ENST00000554263.5:c.540G>A	ENSP00000451202.1:p.Leu180=
ENST00000554435.1:c.540G>A	ENSP00000450549.1:p.Leu180=
NM_000369.2:c.540G>A , LRG_523t1:c.540G>A	NP_000360.2:p.Leu180=
NM_001018036.2:c.540G>A	NP_001018046.1:p.Leu180=
NM_001142626.2:c.540G>A	NP_001136098.1:p.Leu180=
XM_005268037.3:c.540G>A	XP_005268094.1:p.Leu180=
XM_005268039.1:c.540G>A	XP_005268096.1:p.Leu180=
XM_006720245.1:c.540G>A	XP_006720308.1:p.Leu180=
XM_011537119.1:c.261G>A	XP_011535421.1:p.Leu87=
XR_245790.3:n.2480+979C>T
XR_944075.1:n.1260-196C>T
XR_944076.1:n.1255+979C>T
XR_944077.1:n.1259+979C>T
XR_944078.1:n.1259+979C>T
XM_005268037.4:c.540G>A	XP_005268094.1:p.Leu180=
XM_011537119.2:c.261G>A	XP_011535421.1:p.Leu87=
XR_001751018.2:n.700-196C>T
XR_001751019.2:n.699+979C>T
XR_001751020.2:n.699+979C>T
XR_001751021.1:n.3148-196C>T
XR_001751022.1:n.3147+979C>T
XR_001751023.1:n.3280+979C>T
XR_001751024.2:n.700-196C>T
XR_944075.3:n.1324-196C>T
NM_000369.4:c.540G>A	NP_000360.2:p.Leu180=
NM_001018036.3:c.540G>A	NP_001018046.1:p.Leu180=
NM_001142626.3:c.540G>A	NP_001136098.1:p.Leu180=
NM_000369.5:c.540G>A MANE Select	NP_000360.2:p.Leu180=