Canonical Allele Identifier: CA350043555

Gene: NDUFS1

Linked Data

• MyVariant Identifiers: chr2:g.206992637T>G (hg19) ; chr2:g.206127913T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.206127913T>G , CM000664.2:g.206127913T>G	GRCh38
NC_000002.11:g.206992637T>G , CM000664.1:g.206992637T>G	GRCh37
NC_000002.10:g.206700882T>G	NCBI36
NG_009248.1:g.36551A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233190.11:c.1768A>C MANE Select	ENSP00000233190.5:p.Thr590Pro
ENST00000233190.10:c.1768A>C	ENSP00000233190.5:p.Thr590Pro
ENST00000423725.5:c.1597A>C	ENSP00000397760.1:p.Thr533Pro
ENST00000432169.5:c.1435A>C	ENSP00000409689.1:p.Thr479Pro
ENST00000440274.5:c.1660A>C	ENSP00000409766.1:p.Thr554Pro
ENST00000449699.5:c.1768A>C	ENSP00000399912.1:p.Thr590Pro
ENST00000455934.6:c.1810A>C	ENSP00000392709.2:p.Thr604Pro
ENST00000457011.5:c.1420A>C	ENSP00000400976.1:p.Thr474Pro
ENST00000498520.1:n.240A>C
NM_001199981.1:c.1660A>C	NP_001186910.1:p.Thr554Pro
NM_001199982.1:c.1435A>C	NP_001186911.1:p.Thr479Pro
NM_001199983.1:c.1597A>C	NP_001186912.1:p.Thr533Pro
NM_001199984.1:c.1810A>C	NP_001186913.1:p.Thr604Pro
NM_005006.6:c.1768A>C	NP_004997.4:p.Thr590Pro
XM_017004188.2:c.1009A>C	XP_016859677.1:p.Thr337Pro
NM_001199981.2:c.1660A>C	NP_001186910.1:p.Thr554Pro
NM_001199982.2:c.1435A>C	NP_001186911.1:p.Thr479Pro
NM_001199983.2:c.1597A>C	NP_001186912.1:p.Thr533Pro
NM_005006.7:c.1768A>C MANE Select	NP_004997.4:p.Thr590Pro
NM_001199984.2:c.1810A>C	NP_001186913.1:p.Thr604Pro