Canonical Allele Identifier: CA390729218

Gene: TSHR

Linked Data

• MyVariant Identifiers: chr14:g.81610467G>C (hg19) ; chr14:g.81144123G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81144123G>C , CM000676.2:g.81144123G>C	GRCh38
NC_000014.8:g.81610467G>C , CM000676.1:g.81610467G>C	GRCh37
NC_000014.7:g.80680220G>C	NCBI36
NG_009206.1:g.193599G>C , LRG_523:g.193599G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.2065G>C MANE Select	ENSP00000298171.2:p.Val689Leu
ENST00000637447.1:c.968G>C
ENST00000298171.6:c.2065G>C	ENSP00000298171.2:p.Val689Leu
ENST00000541158.6:c.2065G>C	ENSP00000441235.2:p.Val689Leu
NM_000369.2:c.2065G>C , LRG_523t1:c.2065G>C	NP_000360.2:p.Val689Leu
XM_005268037.3:c.2065G>C	XP_005268094.1:p.Val689Leu
XM_011537119.1:c.1786G>C	XP_011535421.1:p.Val596Leu
XR_245790.3:n.2086+21070C>G
XR_429385.2:n.853+21070C>G
XR_429386.2:n.854+21070C>G
XR_944075.1:n.865+21070C>G
XR_944076.1:n.861+21070C>G
XR_944077.1:n.865+21070C>G
XR_944078.1:n.865+21070C>G
XR_944079.1:n.855+21070C>G
XM_005268037.4:c.2065G>C	XP_005268094.1:p.Val689Leu
XM_011537119.2:c.1786G>C	XP_011535421.1:p.Val596Leu
XR_001751021.1:n.2753+21070C>G
XR_001751022.1:n.2753+21070C>G
XR_001751023.1:n.2753+21070C>G
XR_944075.3:n.929+21070C>G
NM_000369.4:c.2065G>C	NP_000360.2:p.Val689Leu
NM_000369.5:c.2065G>C MANE Select	NP_000360.2:p.Val689Leu