Canonical Allele Identifier: CA340420120

Gene: DIO1

Linked Data

• MyVariant Identifiers: chr1:g.54375603G>C (hg19) ; chr1:g.53909930G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53909930G>C , CM000663.2:g.53909930G>C	GRCh38
NC_000001.10:g.54375603G>C , CM000663.1:g.54375603G>C	GRCh37
NC_000001.9:g.54148191G>C	NCBI36
NG_023306.1:g.20743G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361921.8:c.682-1G>C MANE Select	ENSP00000354643.4:n.682-1G>C
ENST00000322679.10:c.482-1G>C	ENSP00000323198.6:n.482-1G>C
ENST00000361921.7:c.682-1G>C	ENSP00000354643.3:n.682-1G>C
ENST00000388876.3:c.538-1G>C	ENSP00000373528.3:n.538-1G>C
ENST00000524406.5:c.295-1G>C	ENSP00000434152.1:n.295-1G>C
ENST00000525044.5:c.*124-1G>C	ENSP00000436550.1:n.*124-1G>C
ENST00000525202.5:c.490-1G>C	ENSP00000435725.1:n.490-1G>C
ENST00000527060.5:c.*422-1G>C	ENSP00000435030.1:n.*422-1G>C
ENST00000528946.5:c.*60-1G>C	ENSP00000433891.1:n.*60-1G>C
ENST00000529329.1:c.455-1G>C	ENSP00000432700.1:n.455-1G>C
ENST00000530084.5:c.*324-1G>C	ENSP00000431999.1:n.*324-1G>C
ENST00000532493.5:c.338-1G>C	ENSP00000434758.1:n.338-1G>C
ENST00000610607.4:c.*341-1G>C	ENSP00000483367.1:n.*341-1G>C
ENST00000613679.4:c.679-1G>C	ENSP00000479755.1:n.679-1G>C
ENST00000617230.2:c.479-1G>C	ENSP00000481665.1:n.479-1G>C
NM_000792.5:c.682-1G>C	NP_000783.2:n.682-1G>C
NM_001039715.1:c.538-1G>C	NP_001034804.1:n.538-1G>C
NM_001039716.1:c.482-1G>C	NP_001034805.1:n.482-1G>C
NM_213593.3:c.490-1G>C	NP_998758.1:n.490-1G>C
NM_000792.6:c.682-1G>C	NP_000783.2:n.682-1G>C
NM_001039715.2:c.538-1G>C	NP_001034804.1:n.538-1G>C
NM_001039716.2:c.482-1G>C	NP_001034805.1:n.482-1G>C
NM_001324316.1:c.338-1G>C	NP_001311245.1:n.338-1G>C
NM_213593.4:c.490-1G>C	NP_998758.1:n.490-1G>C
NR_136692.1:n.597-1G>C
NR_136693.1:n.623-1G>C
NM_000792.7:c.682-1G>C MANE Select	NP_000783.2:n.682-1G>C
NM_001039715.3:c.538-1G>C	NP_001034804.1:n.538-1G>C
NM_001039716.3:c.482-1G>C	NP_001034805.1:n.482-1G>C
NM_001324316.2:c.338-1G>C	NP_001311245.1:n.338-1G>C
NM_213593.5:c.490-1G>C	NP_998758.1:n.490-1G>C
NR_136692.2:n.597-1G>C
NR_136693.2:n.623-1G>C