Canonical Allele Identifier: CA340420148

Gene: DIO1

Linked Data

• MyVariant Identifiers: chr1:g.54375608A>T (hg19) ; chr1:g.53909935A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909935A>T , CM000663.2:g.53909935A>T	GRCh38
NC_000001.10:g.54375608A>T , CM000663.1:g.54375608A>T	GRCh37
NC_000001.9:g.54148196A>T	NCBI36
NG_023306.1:g.20748A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.686A>T MANE Select	ENSP00000354643.4:p.Lys229Ile
ENST00000322679.10:c.486A>T	ENSP00000323198.6:p.Ter162Tyr
ENST00000361921.7:c.686A>T	ENSP00000354643.3:p.Lys229Ile
ENST00000388876.3:c.542A>T	ENSP00000373528.3:p.Lys181Ile
ENST00000524406.5:c.299A>T	ENSP00000434152.1:p.Lys100Ile
ENST00000525044.5:c.*128A>T	ENSP00000436550.1:n.*128A>T
ENST00000525202.5:c.494A>T	ENSP00000435725.1:p.Lys165Ile
ENST00000527060.5:c.*426A>T	ENSP00000435030.1:n.*426A>T
ENST00000528946.5:c.*64A>T	ENSP00000433891.1:n.*64A>T
ENST00000529329.1:c.459A>T	ENSP00000432700.1:n.459A>T
ENST00000530084.5:c.*328A>T	ENSP00000431999.1:n.*328A>T
ENST00000532493.5:c.342A>T	ENSP00000434758.1:p.Ter114Tyr
ENST00000610607.4:c.*345A>T	ENSP00000483367.1:n.*345A>T
ENST00000613679.4:c.683A>T	ENSP00000479755.1:p.Lys228Ile
ENST00000617230.2:c.483A>T	ENSP00000481665.1:p.Ter161Tyr
NM_000792.5:c.686A>T	NP_000783.2:p.Lys229Ile
NM_001039715.1:c.542A>T	NP_001034804.1:p.Lys181Ile
NM_001039716.1:c.486A>T	NP_001034805.1:p.Ter162Tyr
NM_213593.3:c.494A>T	NP_998758.1:p.Lys165Ile
NM_000792.6:c.686A>T	NP_000783.2:p.Lys229Ile
NM_001039715.2:c.542A>T	NP_001034804.1:p.Lys181Ile
NM_001039716.2:c.486A>T	NP_001034805.1:p.Ter162Tyr
NM_001324316.1:c.342A>T	NP_001311245.1:p.Ter114Tyr
NM_213593.4:c.494A>T	NP_998758.1:p.Lys165Ile
NR_136692.1:n.601A>T
NR_136693.1:n.627A>T
NM_000792.7:c.686A>T MANE Select	NP_000783.2:p.Lys229Ile
NM_001039715.3:c.542A>T	NP_001034804.1:p.Lys181Ile
NM_001039716.3:c.486A>T	NP_001034805.1:p.Ter162Tyr
NM_001324316.2:c.342A>T	NP_001311245.1:p.Ter114Tyr
NM_213593.5:c.494A>T	NP_998758.1:p.Lys165Ile
NR_136692.2:n.601A>T
NR_136693.2:n.627A>T