Canonical Allele Identifier: CA350043702

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992660A>G (hg19) ; chr2:g.206127936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127936A>G , CM000664.2:g.206127936A>G	GRCh38
NC_000002.11:g.206992660A>G , CM000664.1:g.206992660A>G	GRCh37
NC_000002.10:g.206700905A>G	NCBI36
NG_009248.1:g.36528T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1745T>C MANE Select	ENSP00000233190.5:p.Val582Ala
ENST00000233190.10:c.1745T>C	ENSP00000233190.5:p.Val582Ala
ENST00000423725.5:c.1574T>C	ENSP00000397760.1:p.Val525Ala
ENST00000432169.5:c.1412T>C	ENSP00000409689.1:p.Val471Ala
ENST00000440274.5:c.1637T>C	ENSP00000409766.1:p.Val546Ala
ENST00000449699.5:c.1745T>C	ENSP00000399912.1:p.Val582Ala
ENST00000455934.6:c.1787T>C	ENSP00000392709.2:p.Val596Ala
ENST00000457011.5:c.1397T>C	ENSP00000400976.1:p.Val466Ala
ENST00000498520.1:n.217T>C
NM_001199981.1:c.1637T>C	NP_001186910.1:p.Val546Ala
NM_001199982.1:c.1412T>C	NP_001186911.1:p.Val471Ala
NM_001199983.1:c.1574T>C	NP_001186912.1:p.Val525Ala
NM_001199984.1:c.1787T>C	NP_001186913.1:p.Val596Ala
NM_005006.6:c.1745T>C	NP_004997.4:p.Val582Ala
XM_017004188.2:c.986T>C	XP_016859677.1:p.Val329Ala
NM_001199981.2:c.1637T>C	NP_001186910.1:p.Val546Ala
NM_001199982.2:c.1412T>C	NP_001186911.1:p.Val471Ala
NM_001199983.2:c.1574T>C	NP_001186912.1:p.Val525Ala
NM_005006.7:c.1745T>C MANE Select	NP_004997.4:p.Val582Ala
NM_001199984.2:c.1787T>C	NP_001186913.1:p.Val596Ala