Canonical Allele Identifier: CA390726169

Gene: TSHR

Linked Data

• MyVariant Identifiers: chr14:g.81609285A>C (hg19) ; chr14:g.81142941A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81142941A>C , CM000676.2:g.81142941A>C	GRCh38
NC_000014.8:g.81609285A>C , CM000676.1:g.81609285A>C	GRCh37
NC_000014.7:g.80679038A>C	NCBI36
NG_009206.1:g.192417A>C , LRG_523:g.192417A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.883A>C MANE Select	ENSP00000298171.2:p.Ile295Leu
ENST00000636454.1:n.801A>C
ENST00000298171.6:c.883A>C	ENSP00000298171.2:p.Ile295Leu
ENST00000541158.6:c.883A>C	ENSP00000441235.2:p.Ile295Leu
NM_000369.2:c.883A>C , LRG_523t1:c.883A>C	NP_000360.2:p.Ile295Leu
XM_005268037.3:c.883A>C	XP_005268094.1:p.Ile295Leu
XM_011537119.1:c.604A>C	XP_011535421.1:p.Ile202Leu
XR_245790.3:n.2086+22252T>G
XR_429385.2:n.853+22252T>G
XR_429386.2:n.854+22252T>G
XR_944075.1:n.865+22252T>G
XR_944076.1:n.861+22252T>G
XR_944077.1:n.865+22252T>G
XR_944078.1:n.865+22252T>G
XR_944079.1:n.855+22252T>G
XM_005268037.4:c.883A>C	XP_005268094.1:p.Ile295Leu
XM_011537119.2:c.604A>C	XP_011535421.1:p.Ile202Leu
XR_001751021.1:n.2753+22252T>G
XR_001751022.1:n.2753+22252T>G
XR_001751023.1:n.2753+22252T>G
XR_944075.3:n.929+22252T>G
NM_000369.4:c.883A>C	NP_000360.2:p.Ile295Leu
NM_000369.5:c.883A>C MANE Select	NP_000360.2:p.Ile295Leu