Canonical Allele Identifier: CA13159812
Community Standard Title: NM_001195518.2(MICU1):c.537+9479G>A
Gene: MICU1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72524267C>T , CM000672.2:g.72524267C>T GRCh38
NC_000010.10:g.74284025C>T , CM000672.1:g.74284025C>T GRCh37
NC_000010.9:g.73954031C>T NCBI36
NG_033179.1:g.106925G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001195518.2:c.537+9479G>A MANE Select NP_001182447.1:n.537+9479G>A
ENST00000361114.10:c.537+9479G>A MANE Select ENSP00000354415.5:n.537+9479G>A
NM_001195518.1:c.537+9479G>A NP_001182447.1:n.537+9479G>A
NM_001363513.1:c.549+468G>A NP_001350442.1:n.549+468G>A
NM_001363513.2:c.549+468G>A NP_001350442.1:n.549+468G>A
NM_006077.3:c.537+9479G>A NP_006068.2:n.537+9479G>A
NM_006077.4:c.537+9479G>A NP_006068.2:n.537+9479G>A
ENST00000361114.9:c.537+9479G>A ENSP00000354415.5:n.537+9479G>A
ENST00000398761.8:c.541+9475G>A ENSP00000381745.5:n.541+9475G>A
ENST00000476605.7:c.64+9479G>A
ENST00000603011.5:c.435+9479G>A ENSP00000474192.1:n.435+9479G>A
ENST00000604238.2:c.936+7193G>A ENSP00000474775.2:n.936+7193G>A
ENST00000635239.1:c.549+468G>A ENSP00000489563.1:n.549+468G>A
ENST00000642044.1:c.549+468G>A ENSP00000493232.1:n.549+468G>A
XM_005269383.1:c.549+468G>A XP_005269440.1:n.549+468G>A
XM_005269384.1:c.549+468G>A XP_005269441.1:n.549+468G>A
XM_011539119.1:c.705+8728G>A XP_011537421.1:n.705+8728G>A
XR_001746993.2:n.793+8728G>A
XR_001746994.2:n.625+9479G>A
XR_945585.1:n.792+8728G>A
XR_945586.1:n.624+9479G>A
XR_945586.2:n.625+9479G>A