Canonical Allele Identifier: CA2150076369

Gene: TSHR

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144137C= , CM000676.2:g.81144137C=	GRCh38
NC_000014.8:g.81610481C= , CM000676.1:g.81610481C=	GRCh37
NC_000014.7:g.80680234C=	NCBI36
NG_009206.1:g.193613C= , LRG_523:g.193613C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2079C= MANE Select	ENSP00000298171.2:p.Leu693=
ENST00000637447.1:c.982C=
ENST00000298171.6:c.2079C=	ENSP00000298171.2:p.Leu693=
ENST00000541158.6:c.2079C=	ENSP00000441235.2:p.Leu693=
NM_000369.2:c.2079C= , LRG_523t1:c.2079C=	NP_000360.2:p.Leu693=
XM_005268037.3:c.2079C=	XP_005268094.1:p.Leu693=
XM_011537119.1:c.1800C=	XP_011535421.1:p.Leu600=
XR_245790.3:n.2086+21056G=
XR_429385.2:n.853+21056G=
XR_429386.2:n.854+21056G=
XR_944075.1:n.865+21056G=
XR_944076.1:n.861+21056G=
XR_944077.1:n.865+21056G=
XR_944078.1:n.865+21056G=
XR_944079.1:n.855+21056G=
XM_005268037.4:c.2079C=	XP_005268094.1:p.Leu693=
XM_011537119.2:c.1800C=	XP_011535421.1:p.Leu600=
XR_001751021.1:n.2753+21056G=
XR_001751022.1:n.2753+21056G=
XR_001751023.1:n.2753+21056G=
XR_944075.3:n.929+21056G=
NM_000369.4:c.2079C=	NP_000360.2:p.Leu693=
NM_000369.5:c.2079C= MANE Select	NP_000360.2:p.Leu693=