Canonical Allele Identifier: CA350057253

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009667A>C (hg19) ; chr2:g.206144943A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144943A>C , CM000664.2:g.206144943A>C	GRCh38
NC_000002.11:g.207009667A>C , CM000664.1:g.207009667A>C	GRCh37
NC_000002.10:g.206717912A>C	NCBI36
NG_009248.1:g.19521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.821T>G MANE Select	ENSP00000233190.5:p.Leu274Trp
ENST00000233190.10:c.821T>G	ENSP00000233190.5:p.Leu274Trp
ENST00000423725.5:c.650T>G	ENSP00000397760.1:p.Leu217Trp
ENST00000432169.5:c.488T>G	ENSP00000409689.1:p.Leu163Trp
ENST00000440274.5:c.713T>G	ENSP00000409766.1:p.Leu238Trp
ENST00000449699.5:c.821T>G	ENSP00000399912.1:p.Leu274Trp
ENST00000455934.6:c.863T>G	ENSP00000392709.2:p.Leu288Trp
ENST00000457011.5:c.473T>G	ENSP00000400976.1:p.Leu158Trp
NM_001199981.1:c.713T>G	NP_001186910.1:p.Leu238Trp
NM_001199982.1:c.488T>G	NP_001186911.1:p.Leu163Trp
NM_001199983.1:c.650T>G	NP_001186912.1:p.Leu217Trp
NM_001199984.1:c.863T>G	NP_001186913.1:p.Leu288Trp
NM_005006.6:c.821T>G	NP_004997.4:p.Leu274Trp
XM_017004188.2:c.62T>G	XP_016859677.1:p.Leu21Trp
NM_001199981.2:c.713T>G	NP_001186910.1:p.Leu238Trp
NM_001199982.2:c.488T>G	NP_001186911.1:p.Leu163Trp
NM_001199983.2:c.650T>G	NP_001186912.1:p.Leu217Trp
NM_005006.7:c.821T>G MANE Select	NP_004997.4:p.Leu274Trp
NM_001199984.2:c.863T>G	NP_001186913.1:p.Leu288Trp