Canonical Allele Identifier: CA7293999

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.80955850T>C , CM000676.2:g.80955850T>C GRCh38
NC_000014.8:g.81422194T>C , CM000676.1:g.81422194T>C GRCh37
NC_000014.7:g.80491947T>C NCBI36
NG_009206.1:g.5326T>C , LRG_523:g.5326T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000369.5:c.170T>C (TSHR) MANE Select NP_000360.2:p.Leu57Pro
ENST00000298171.7:c.170T>C (TSHR) MANE Select ENSP00000298171.2:p.Leu57Pro
NM_000369.2:c.170T>C , LRG_523t1:c.170T>C (TSHR) NP_000360.2:p.Leu57Pro
NM_000369.4:c.170T>C (TSHR) NP_000360.2:p.Leu57Pro
NM_001018036.2:c.170T>C (TSHR) NP_001018046.1:p.Leu57Pro
NM_001018036.3:c.170T>C (TSHR) NP_001018046.1:p.Leu57Pro
NM_001142626.2:c.170T>C (TSHR) NP_001136098.1:p.Leu57Pro
NM_001142626.3:c.170T>C (TSHR) NP_001136098.1:p.Leu57Pro
ENST00000298171.6:c.170T>C (TSHR) ENSP00000298171.2:p.Leu57Pro
ENST00000342443.10:c.170T>C (TSHR) ENSP00000340113.6:p.Leu57Pro
ENST00000541158.6:c.170T>C (TSHR) ENSP00000441235.2:p.Leu57Pro
ENST00000553763.1:n.270T>C (TSHR)
ENST00000554263.5:c.170T>C (TSHR) ENSP00000451202.1:p.Leu57Pro
ENST00000554368.1:n.194+2328A>G (CEP128)
ENST00000554435.1:c.170T>C (TSHR) ENSP00000450549.1:p.Leu57Pro
ENST00000555326.5:c.170T>C (TSHR) ENSP00000451092.1:p.Leu57Pro
ENST00000555529.5:c.-172+2328A>G (CEP128) ENSP00000451137.1:n.-172+2328A>G
ENST00000556042.5:c.-16+2328A>G (CEP128) ENSP00000451214.1:n.-16+2328A>G
ENST00000556981.5:c.-269+2328A>G (CEP128) ENSP00000451428.1:n.-269+2328A>G
ENST00000557096.1:n.546T>C (TSHR)
ENST00000642209.1:c.170T>C (TSHR) ENSP00000495625.1:p.Leu57Pro
XM_005268037.3:c.170T>C (TSHR) XP_005268094.1:p.Leu57Pro
XM_005268037.4:c.170T>C (TSHR) XP_005268094.1:p.Leu57Pro
XM_005268039.1:c.170T>C (TSHR) XP_005268096.1:p.Leu57Pro
XM_006720245.1:c.170T>C (TSHR) XP_006720308.1:p.Leu57Pro
XM_011536492.1:c.-16+2328A>G (CEP128) XP_011534794.1:n.-16+2328A>G
XM_011536492.2:c.-16+2328A>G (CEP128) XP_011534794.1:n.-16+2328A>G
XM_011537119.1:c.-159T>C (TSHR) XP_011535421.1:n.-159T>C
XM_011537119.2:c.-159T>C (TSHR) XP_011535421.1:n.-159T>C