Canonical Allele Identifier: CA350056932

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009630G>C (hg19) ; chr2:g.206144906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144906G>C , CM000664.2:g.206144906G>C	GRCh38
NC_000002.11:g.207009630G>C , CM000664.1:g.207009630G>C	GRCh37
NC_000002.10:g.206717875G>C	NCBI36
NG_009248.1:g.19558C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.858C>G MANE Select	ENSP00000233190.5:p.Ile286Met
ENST00000233190.10:c.858C>G	ENSP00000233190.5:p.Ile286Met
ENST00000423725.5:c.687C>G	ENSP00000397760.1:p.Ile229Met
ENST00000432169.5:c.525C>G	ENSP00000409689.1:p.Ile175Met
ENST00000440274.5:c.750C>G	ENSP00000409766.1:p.Ile250Met
ENST00000449699.5:c.858C>G	ENSP00000399912.1:p.Ile286Met
ENST00000455934.6:c.900C>G	ENSP00000392709.2:p.Ile300Met
ENST00000457011.5:c.510C>G	ENSP00000400976.1:p.Ile170Met
NM_001199981.1:c.750C>G	NP_001186910.1:p.Ile250Met
NM_001199982.1:c.525C>G	NP_001186911.1:p.Ile175Met
NM_001199983.1:c.687C>G	NP_001186912.1:p.Ile229Met
NM_001199984.1:c.900C>G	NP_001186913.1:p.Ile300Met
NM_005006.6:c.858C>G	NP_004997.4:p.Ile286Met
XM_017004188.2:c.99C>G	XP_016859677.1:p.Ile33Met
NM_001199981.2:c.750C>G	NP_001186910.1:p.Ile250Met
NM_001199982.2:c.525C>G	NP_001186911.1:p.Ile175Met
NM_001199983.2:c.687C>G	NP_001186912.1:p.Ile229Met
NM_005006.7:c.858C>G MANE Select	NP_004997.4:p.Ile286Met
NM_001199984.2:c.900C>G	NP_001186913.1:p.Ile300Met