Canonical Allele Identifier: CA209799815
Community Standard Title: NM_001195518.2(MICU1):c.652+232C>G
Gene: MICU1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72507923G>C , CM000672.2:g.72507923G>C GRCh38
NC_000010.10:g.74267681G>C , CM000672.1:g.74267681G>C GRCh37
NC_000010.9:g.73937687G>C NCBI36
NG_033179.1:g.123269C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001195518.2:c.652+232C>G MANE Select NP_001182447.1:n.652+232C>G
ENST00000361114.10:c.652+232C>G MANE Select ENSP00000354415.5:n.652+232C>G
NM_001195518.1:c.652+232C>G NP_001182447.1:n.652+232C>G
NM_001195519.1:c.58+15879C>G NP_001182448.1:n.58+15879C>G
NM_001195519.2:c.58+15879C>G NP_001182448.1:n.58+15879C>G
NM_001363513.1:c.670+232C>G NP_001350442.1:n.670+232C>G
NM_001363513.2:c.670+232C>G NP_001350442.1:n.670+232C>G
NM_006077.3:c.658+232C>G NP_006068.2:n.658+232C>G
NM_006077.4:c.658+232C>G NP_006068.2:n.658+232C>G
ENST00000361114.9:c.652+232C>G ENSP00000354415.5:n.652+232C>G
ENST00000398761.8:c.658+232C>G ENSP00000381745.5:n.658+232C>G
ENST00000398763.8:c.-54+232C>G ENSP00000381747.4:n.-54+232C>G
ENST00000418483.6:c.58+15879C>G ENSP00000402470.2:n.58+15879C>G
ENST00000476605.7:c.179+232C>G
ENST00000489666.2:c.58+15879C>G ENSP00000474809.1:n.58+15879C>G
ENST00000603011.5:c.550+232C>G ENSP00000474192.1:n.550+232C>G
ENST00000604238.2:c.1051+232C>G ENSP00000474775.2:n.1051+232C>G
ENST00000604529.1:n.471+232C>G
ENST00000635239.1:c.664+232C>G ENSP00000489563.1:n.664+232C>G
ENST00000642044.1:c.670+232C>G ENSP00000493232.1:n.670+232C>G
XM_005269383.1:c.670+232C>G XP_005269440.1:n.670+232C>G
XM_005269384.1:c.664+232C>G XP_005269441.1:n.664+232C>G
XM_005269386.1:c.-33+232C>G XP_005269443.1:n.-33+232C>G
XM_005269386.2:c.-33+232C>G XP_005269443.1:n.-33+232C>G
XM_011539119.1:c.820+232C>G XP_011537421.1:n.820+232C>G
XR_001746993.2:n.908+232C>G
XR_001746994.2:n.746+232C>G
XR_945585.1:n.907+232C>G
XR_945586.1:n.739+232C>G
XR_945586.2:n.740+232C>G