Canonical Allele Identifier: CA5550250

Gene: MICU1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.72533760G>A , CM000672.2:g.72533760G>A	GRCh38
NC_000010.10:g.74293518G>A , CM000672.1:g.74293518G>A	GRCh37
NC_000010.9:g.73963524G>A	NCBI36
NG_033179.1:g.97432C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001195518.2:c.523C>T MANE Select	NP_001182447.1:p.Arg175Cys
ENST00000361114.10:c.523C>T MANE Select	ENSP00000354415.5:p.Arg175Cys
NM_001195518.1:c.523C>T	NP_001182447.1:p.Arg175Cys
NM_001363513.1:c.523C>T	NP_001350442.1:p.Arg175Cys
NM_001363513.2:c.523C>T	NP_001350442.1:p.Arg175Cys
NM_006077.3:c.523C>T	NP_006068.2:p.Arg175Cys
NM_006077.4:c.523C>T	NP_006068.2:p.Arg175Cys
ENST00000361114.9:c.523C>T	ENSP00000354415.5:p.Arg175Cys
ENST00000398761.8:c.523C>T	ENSP00000381745.5:p.Arg175Cys
ENST00000476605.7:c.50C>T
ENST00000603011.5:c.421C>T	ENSP00000474192.1:p.Arg141Cys
ENST00000604238.2:c.523C>T	ENSP00000474775.2:p.Arg175Cys
ENST00000635239.1:c.523C>T	ENSP00000489563.1:p.Arg175Cys
ENST00000642044.1:c.523C>T	ENSP00000493232.1:p.Arg175Cys
XM_005269383.1:c.523C>T	XP_005269440.1:p.Arg175Cys
XM_005269384.1:c.523C>T	XP_005269441.1:p.Arg175Cys
XM_011539119.1:c.523C>T	XP_011537421.1:p.Arg175Cys
XR_001746993.2:n.611C>T
XR_001746994.2:n.611C>T
XR_945585.1:n.610C>T
XR_945586.1:n.610C>T
XR_945586.2:n.611C>T