Canonical Allele Identifier: CA390727327

Gene: TSHR

Linked Data

• MyVariant Identifiers: chr14:g.81609651C>A (hg19) ; chr14:g.81143307C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.81143307C>A , CM000676.2:g.81143307C>A	GRCh38
NC_000014.8:g.81609651C>A , CM000676.1:g.81609651C>A	GRCh37
NC_000014.7:g.80679404C>A	NCBI36
NG_009206.1:g.192783C>A , LRG_523:g.192783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.1249C>A MANE Select	ENSP00000298171.2:p.Leu417Met
ENST00000636454.1:n.1167C>A
ENST00000637447.1:c.152C>A
ENST00000298171.6:c.1249C>A	ENSP00000298171.2:p.Leu417Met
ENST00000541158.6:c.1249C>A	ENSP00000441235.2:p.Leu417Met
NM_000369.2:c.1249C>A , LRG_523t1:c.1249C>A	NP_000360.2:p.Leu417Met
XM_005268037.3:c.1249C>A	XP_005268094.1:p.Leu417Met
XM_011537119.1:c.970C>A	XP_011535421.1:p.Leu324Met
XR_245790.3:n.2086+21886G>T
XR_429385.2:n.853+21886G>T
XR_429386.2:n.854+21886G>T
XR_944075.1:n.865+21886G>T
XR_944076.1:n.861+21886G>T
XR_944077.1:n.865+21886G>T
XR_944078.1:n.865+21886G>T
XR_944079.1:n.855+21886G>T
XM_005268037.4:c.1249C>A	XP_005268094.1:p.Leu417Met
XM_011537119.2:c.970C>A	XP_011535421.1:p.Leu324Met
XR_001751021.1:n.2753+21886G>T
XR_001751022.1:n.2753+21886G>T
XR_001751023.1:n.2753+21886G>T
XR_944075.3:n.929+21886G>T
NM_000369.4:c.1249C>A	NP_000360.2:p.Leu417Met
NM_000369.5:c.1249C>A MANE Select	NP_000360.2:p.Leu417Met