Canonical Allele Identifier: CA10641175

Gene: TSHR CEP128

Linked Data

• ClinVar Variation Id: 314689
• ClinVar RCV Id: RCV000277558 ; RCV000332604
• dbSNP Id: rs201252762
• gnomAD v2: 14-81421965-G-A
• gnomAD v3: 14-80955621-G-A
• gnomAD v4: 14-80955621-G-A
• MyVariant Identifiers: chr14:g.81421965G>A (hg19) ; chr14:g.80955621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80955621G>A , CM000676.2:g.80955621G>A	GRCh38
NC_000014.8:g.81421965G>A , CM000676.1:g.81421965G>A	GRCh37
NC_000014.7:g.80491718G>A	NCBI36
NG_009206.1:g.5097G>A , LRG_523:g.5097G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000298171.7:c.-60G>A (TSHR) MANE Select	ENSP00000298171.2:n.-60G>A
ENST00000642209.1:c.-60G>A (TSHR)	ENSP00000495625.1:n.-60G>A
ENST00000298171.6:c.-60G>A (TSHR)	ENSP00000298171.2:n.-60G>A
ENST00000342443.10:c.-60G>A (TSHR)	ENSP00000340113.6:n.-60G>A
ENST00000541158.6:c.-60G>A (TSHR)	ENSP00000441235.2:n.-60G>A
ENST00000553763.1:n.41G>A (TSHR)
ENST00000554368.1:n.194+2557C>T (CEP128)
ENST00000555529.5:c.-172+2557C>T (CEP128)	ENSP00000451137.1:n.-172+2557C>T
ENST00000556042.5:c.-16+2557C>T (CEP128)	ENSP00000451214.1:n.-16+2557C>T
ENST00000556981.5:c.-269+2557C>T (CEP128)	ENSP00000451428.1:n.-269+2557C>T
ENST00000557096.1:n.317G>A (TSHR)
NM_000369.2:c.-60G>A , LRG_523t1:c.-60G>A (TSHR)	NP_000360.2:n.-60G>A
NM_001018036.2:c.-60G>A (TSHR)	NP_001018046.1:n.-60G>A
NM_001142626.2:c.-60G>A (TSHR)	NP_001136098.1:n.-60G>A
XM_005268037.3:c.-60G>A (TSHR)	XP_005268094.1:n.-60G>A
XM_005268039.1:c.-60G>A (TSHR)	XP_005268096.1:n.-60G>A
XM_006720245.1:c.-60G>A (TSHR)	XP_006720308.1:n.-60G>A
XM_011536492.1:c.-16+2557C>T (CEP128)	XP_011534794.1:n.-16+2557C>T
XM_005268037.4:c.-60G>A (TSHR)	XP_005268094.1:n.-60G>A
XM_011536492.2:c.-16+2557C>T (CEP128)	XP_011534794.1:n.-16+2557C>T
NM_000369.4:c.-60G>A (TSHR)	NP_000360.2:n.-60G>A
NM_001018036.3:c.-60G>A (TSHR)	NP_001018046.1:n.-60G>A
NM_001142626.3:c.-60G>A (TSHR)	NP_001136098.1:n.-60G>A
NM_000369.5:c.-60G>A (TSHR) MANE Select	NP_000360.2:n.-60G>A