Canonical Allele Identifier: CA2625927411

Gene: TSHR CEP128

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.80955865G>T , CM000676.2:g.80955865G>T	GRCh38
NC_000014.8:g.81422209G>T , CM000676.1:g.81422209G>T	GRCh37
NC_000014.7:g.80491962G>T	NCBI36
NG_009206.1:g.5341G>T , LRG_523:g.5341G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000369.5:c.170+15G>T (TSHR) MANE Select	NP_000360.2:n.170+15G>T
ENST00000298171.7:c.170+15G>T (TSHR) MANE Select	ENSP00000298171.2:n.170+15G>T
NM_000369.2:c.170+15G>T , LRG_523t1:c.170+15G>T (TSHR)	NP_000360.2:n.170+15G>T
NM_000369.4:c.170+15G>T (TSHR)	NP_000360.2:n.170+15G>T
NM_001018036.2:c.170+15G>T (TSHR)	NP_001018046.1:n.170+15G>T
NM_001018036.3:c.170+15G>T (TSHR)	NP_001018046.1:n.170+15G>T
NM_001142626.2:c.170+15G>T (TSHR)	NP_001136098.1:n.170+15G>T
NM_001142626.3:c.170+15G>T (TSHR)	NP_001136098.1:n.170+15G>T
ENST00000298171.6:c.170+15G>T (TSHR)	ENSP00000298171.2:n.170+15G>T
ENST00000342443.10:c.170+15G>T (TSHR)	ENSP00000340113.6:n.170+15G>T
ENST00000541158.6:c.170+15G>T (TSHR)	ENSP00000441235.2:n.170+15G>T
ENST00000553763.1:n.270+15G>T (TSHR)
ENST00000554263.5:c.170+15G>T (TSHR)	ENSP00000451202.1:n.170+15G>T
ENST00000554368.1:n.194+2313C>A (CEP128)
ENST00000554435.1:c.170+15G>T (TSHR)	ENSP00000450549.1:n.170+15G>T
ENST00000555326.5:c.170+15G>T (TSHR)	ENSP00000451092.1:n.170+15G>T
ENST00000555529.5:c.-172+2313C>A (CEP128)	ENSP00000451137.1:n.-172+2313C>A
ENST00000556042.5:c.-16+2313C>A (CEP128)	ENSP00000451214.1:n.-16+2313C>A
ENST00000556981.5:c.-269+2313C>A (CEP128)	ENSP00000451428.1:n.-269+2313C>A
ENST00000557096.1:n.561G>T (TSHR)
ENST00000642209.1:c.170+15G>T (TSHR)	ENSP00000495625.1:n.170+15G>T
XM_005268037.3:c.170+15G>T (TSHR)	XP_005268094.1:n.170+15G>T
XM_005268037.4:c.170+15G>T (TSHR)	XP_005268094.1:n.170+15G>T
XM_005268039.1:c.170+15G>T (TSHR)	XP_005268096.1:n.170+15G>T
XM_006720245.1:c.170+15G>T (TSHR)	XP_006720308.1:n.170+15G>T
XM_011536492.1:c.-16+2313C>A (CEP128)	XP_011534794.1:n.-16+2313C>A
XM_011536492.2:c.-16+2313C>A (CEP128)	XP_011534794.1:n.-16+2313C>A
XM_011537119.1:c.-159+15G>T (TSHR)	XP_011535421.1:n.-159+15G>T
XM_011537119.2:c.-159+15G>T (TSHR)	XP_011535421.1:n.-159+15G>T