Canonical Allele Identifier: CA340420140

Gene: DIO1

Linked Data

• MyVariant Identifiers: chr1:g.54375607A>C (hg19) ; chr1:g.53909934A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909934A>C , CM000663.2:g.53909934A>C	GRCh38
NC_000001.10:g.54375607A>C , CM000663.1:g.54375607A>C	GRCh37
NC_000001.9:g.54148195A>C	NCBI36
NG_023306.1:g.20747A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.685A>C MANE Select	ENSP00000354643.4:p.Lys229Gln
ENST00000322679.10:c.485A>C	ENSP00000323198.6:p.Ter162Ser
ENST00000361921.7:c.685A>C	ENSP00000354643.3:p.Lys229Gln
ENST00000388876.3:c.541A>C	ENSP00000373528.3:p.Lys181Gln
ENST00000524406.5:c.298A>C	ENSP00000434152.1:p.Lys100Gln
ENST00000525044.5:c.*127A>C	ENSP00000436550.1:n.*127A>C
ENST00000525202.5:c.493A>C	ENSP00000435725.1:p.Lys165Gln
ENST00000527060.5:c.*425A>C	ENSP00000435030.1:n.*425A>C
ENST00000528946.5:c.*63A>C	ENSP00000433891.1:n.*63A>C
ENST00000529329.1:c.458A>C	ENSP00000432700.1:n.458A>C
ENST00000530084.5:c.*327A>C	ENSP00000431999.1:n.*327A>C
ENST00000532493.5:c.341A>C	ENSP00000434758.1:p.Ter114Ser
ENST00000610607.4:c.*344A>C	ENSP00000483367.1:n.*344A>C
ENST00000613679.4:c.682A>C	ENSP00000479755.1:p.Lys228Gln
ENST00000617230.2:c.482A>C	ENSP00000481665.1:p.Ter161Ser
NM_000792.5:c.685A>C	NP_000783.2:p.Lys229Gln
NM_001039715.1:c.541A>C	NP_001034804.1:p.Lys181Gln
NM_001039716.1:c.485A>C	NP_001034805.1:p.Ter162Ser
NM_213593.3:c.493A>C	NP_998758.1:p.Lys165Gln
NM_000792.6:c.685A>C	NP_000783.2:p.Lys229Gln
NM_001039715.2:c.541A>C	NP_001034804.1:p.Lys181Gln
NM_001039716.2:c.485A>C	NP_001034805.1:p.Ter162Ser
NM_001324316.1:c.341A>C	NP_001311245.1:p.Ter114Ser
NM_213593.4:c.493A>C	NP_998758.1:p.Lys165Gln
NR_136692.1:n.600A>C
NR_136693.1:n.626A>C
NM_000792.7:c.685A>C MANE Select	NP_000783.2:p.Lys229Gln
NM_001039715.3:c.541A>C	NP_001034804.1:p.Lys181Gln
NM_001039716.3:c.485A>C	NP_001034805.1:p.Ter162Ser
NM_001324316.2:c.341A>C	NP_001311245.1:p.Ter114Ser
NM_213593.5:c.493A>C	NP_998758.1:p.Lys165Gln
NR_136692.2:n.600A>C
NR_136693.2:n.626A>C