Canonical Allele Identifier: CA350057486

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.207009701C>G (hg19) ; chr2:g.206144977C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206144977C>G , CM000664.2:g.206144977C>G	GRCh38
NC_000002.11:g.207009701C>G , CM000664.1:g.207009701C>G	GRCh37
NC_000002.10:g.206717946C>G	NCBI36
NG_009248.1:g.19487G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.787G>C MANE Select	ENSP00000233190.5:p.Val263Leu
ENST00000233190.10:c.787G>C	ENSP00000233190.5:p.Val263Leu
ENST00000423725.5:c.616G>C	ENSP00000397760.1:p.Val206Leu
ENST00000432169.5:c.454G>C	ENSP00000409689.1:p.Val152Leu
ENST00000440274.5:c.679G>C	ENSP00000409766.1:p.Val227Leu
ENST00000449699.5:c.787G>C	ENSP00000399912.1:p.Val263Leu
ENST00000455934.6:c.829G>C	ENSP00000392709.2:p.Val277Leu
ENST00000457011.5:c.439G>C	ENSP00000400976.1:p.Val147Leu
NM_001199981.1:c.679G>C	NP_001186910.1:p.Val227Leu
NM_001199982.1:c.454G>C	NP_001186911.1:p.Val152Leu
NM_001199983.1:c.616G>C	NP_001186912.1:p.Val206Leu
NM_001199984.1:c.829G>C	NP_001186913.1:p.Val277Leu
NM_005006.6:c.787G>C	NP_004997.4:p.Val263Leu
XM_017004188.2:c.28G>C	XP_016859677.1:p.Val10Leu
NM_001199981.2:c.679G>C	NP_001186910.1:p.Val227Leu
NM_001199982.2:c.454G>C	NP_001186911.1:p.Val152Leu
NM_001199983.2:c.616G>C	NP_001186912.1:p.Val206Leu
NM_005006.7:c.787G>C MANE Select	NP_004997.4:p.Val263Leu
NM_001199984.2:c.829G>C	NP_001186913.1:p.Val277Leu