Canonical Allele Identifier: CA350043651

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992654A>C (hg19) ; chr2:g.206127930A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127930A>C , CM000664.2:g.206127930A>C	GRCh38
NC_000002.11:g.206992654A>C , CM000664.1:g.206992654A>C	GRCh37
NC_000002.10:g.206700899A>C	NCBI36
NG_009248.1:g.36534T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1751T>G MANE Select	ENSP00000233190.5:p.Leu584Arg
ENST00000233190.10:c.1751T>G	ENSP00000233190.5:p.Leu584Arg
ENST00000423725.5:c.1580T>G	ENSP00000397760.1:p.Leu527Arg
ENST00000432169.5:c.1418T>G	ENSP00000409689.1:p.Leu473Arg
ENST00000440274.5:c.1643T>G	ENSP00000409766.1:p.Leu548Arg
ENST00000449699.5:c.1751T>G	ENSP00000399912.1:p.Leu584Arg
ENST00000455934.6:c.1793T>G	ENSP00000392709.2:p.Leu598Arg
ENST00000457011.5:c.1403T>G	ENSP00000400976.1:p.Leu468Arg
ENST00000498520.1:n.223T>G
NM_001199981.1:c.1643T>G	NP_001186910.1:p.Leu548Arg
NM_001199982.1:c.1418T>G	NP_001186911.1:p.Leu473Arg
NM_001199983.1:c.1580T>G	NP_001186912.1:p.Leu527Arg
NM_001199984.1:c.1793T>G	NP_001186913.1:p.Leu598Arg
NM_005006.6:c.1751T>G	NP_004997.4:p.Leu584Arg
XM_017004188.2:c.992T>G	XP_016859677.1:p.Leu331Arg
NM_001199981.2:c.1643T>G	NP_001186910.1:p.Leu548Arg
NM_001199982.2:c.1418T>G	NP_001186911.1:p.Leu473Arg
NM_001199983.2:c.1580T>G	NP_001186912.1:p.Leu527Arg
NM_005006.7:c.1751T>G MANE Select	NP_004997.4:p.Leu584Arg
NM_001199984.2:c.1793T>G	NP_001186913.1:p.Leu598Arg