Canonical Allele Identifier: CA390734399

Gene: TSHR

Linked Data

• MyVariant Identifiers: chr14:g.81557450C>G (hg19) ; chr14:g.81091106C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81091106C>G , CM000676.2:g.81091106C>G	GRCh38
NC_000014.8:g.81557450C>G , CM000676.1:g.81557450C>G	GRCh37
NC_000014.7:g.80627203C>G	NCBI36
NG_009206.1:g.140582C>G , LRG_523:g.140582C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000298171.7:c.430C>G MANE Select	ENSP00000298171.2:p.Leu144Val
ENST00000636454.1:n.348C>G
ENST00000298171.6:c.430C>G	ENSP00000298171.2:p.Leu144Val
ENST00000342443.10:c.430C>G	ENSP00000340113.6:p.Leu144Val
ENST00000541158.6:c.430C>G	ENSP00000441235.2:p.Leu144Val
ENST00000554263.5:c.430C>G	ENSP00000451202.1:p.Leu144Val
ENST00000554435.1:c.430C>G	ENSP00000450549.1:p.Leu144Val
ENST00000555326.5:c.*140C>G	ENSP00000451092.1:n.*140C>G
NM_000369.2:c.430C>G , LRG_523t1:c.430C>G	NP_000360.2:p.Leu144Val
NM_001018036.2:c.430C>G	NP_001018046.1:p.Leu144Val
NM_001142626.2:c.430C>G	NP_001136098.1:p.Leu144Val
XM_005268037.3:c.430C>G	XP_005268094.1:p.Leu144Val
XM_005268039.1:c.430C>G	XP_005268096.1:p.Leu144Val
XM_006720245.1:c.430C>G	XP_006720308.1:p.Leu144Val
XM_011537119.1:c.151C>G	XP_011535421.1:p.Leu51Val
XR_245790.3:n.2480+2476G>C
XR_944075.1:n.1353+1208G>C
XR_944076.1:n.1255+2476G>C
XR_944077.1:n.1259+2476G>C
XR_944078.1:n.1259+2476G>C
XM_005268037.4:c.430C>G	XP_005268094.1:p.Leu144Val
XM_011537119.2:c.151C>G	XP_011535421.1:p.Leu51Val
XR_001751018.2:n.793+1208G>C
XR_001751019.2:n.699+2476G>C
XR_001751020.2:n.699+2476G>C
XR_001751021.1:n.3241+1208G>C
XR_001751022.1:n.3147+2476G>C
XR_001751023.1:n.3280+2476G>C
XR_001751024.2:n.793+1208G>C
XR_944075.3:n.1417+1208G>C
NM_000369.4:c.430C>G	NP_000360.2:p.Leu144Val
NM_001018036.3:c.430C>G	NP_001018046.1:p.Leu144Val
NM_001142626.3:c.430C>G	NP_001136098.1:p.Leu144Val
NM_000369.5:c.430C>G MANE Select	NP_000360.2:p.Leu144Val