Canonical Allele Identifier: CA350043407

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992616C>G (hg19) ; chr2:g.206127892C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127892C>G , CM000664.2:g.206127892C>G	GRCh38
NC_000002.11:g.206992616C>G , CM000664.1:g.206992616C>G	GRCh37
NC_000002.10:g.206700861C>G	NCBI36
NG_009248.1:g.36572G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1789G>C MANE Select	ENSP00000233190.5:p.Val597Leu
ENST00000233190.10:c.1789G>C	ENSP00000233190.5:p.Val597Leu
ENST00000423725.5:c.1618G>C	ENSP00000397760.1:p.Val540Leu
ENST00000432169.5:c.1456G>C	ENSP00000409689.1:p.Val486Leu
ENST00000440274.5:c.1681G>C	ENSP00000409766.1:p.Val561Leu
ENST00000449699.5:c.1789G>C	ENSP00000399912.1:p.Val597Leu
ENST00000455934.6:c.1831G>C	ENSP00000392709.2:p.Val611Leu
ENST00000457011.5:c.1441G>C	ENSP00000400976.1:p.Val481Leu
ENST00000498520.1:n.261G>C
NM_001199981.1:c.1681G>C	NP_001186910.1:p.Val561Leu
NM_001199982.1:c.1456G>C	NP_001186911.1:p.Val486Leu
NM_001199983.1:c.1618G>C	NP_001186912.1:p.Val540Leu
NM_001199984.1:c.1831G>C	NP_001186913.1:p.Val611Leu
NM_005006.6:c.1789G>C	NP_004997.4:p.Val597Leu
XM_017004188.2:c.1030G>C	XP_016859677.1:p.Val344Leu
NM_001199981.2:c.1681G>C	NP_001186910.1:p.Val561Leu
NM_001199982.2:c.1456G>C	NP_001186911.1:p.Val486Leu
NM_001199983.2:c.1618G>C	NP_001186912.1:p.Val540Leu
NM_005006.7:c.1789G>C MANE Select	NP_004997.4:p.Val597Leu
NM_001199984.2:c.1831G>C	NP_001186913.1:p.Val611Leu