Canonical Allele Identifier: CA209555628
Community Standard Title: NM_001195518.2(MICU1):c.1071+8G>A
Gene: MICU1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72423226C>T , CM000672.2:g.72423226C>T GRCh38
NC_000010.10:g.74182984C>T , CM000672.1:g.74182984C>T GRCh37
NC_000010.9:g.73852990C>T NCBI36
NG_033179.1:g.207966G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001195518.2:c.1071+8G>A MANE Select NP_001182447.1:n.1071+8G>A
ENST00000361114.10:c.1071+8G>A MANE Select ENSP00000354415.5:n.1071+8G>A
NM_001195518.1:c.1071+8G>A NP_001182447.1:n.1071+8G>A
NM_001195519.1:c.477+8G>A NP_001182448.1:n.477+8G>A
NM_001195519.2:c.477+8G>A NP_001182448.1:n.477+8G>A
NM_001363513.1:c.1089+8G>A NP_001350442.1:n.1089+8G>A
NM_001363513.2:c.1089+8G>A NP_001350442.1:n.1089+8G>A
NM_006077.3:c.1077+8G>A NP_006068.2:n.1077+8G>A
NM_006077.4:c.1077+8G>A NP_006068.2:n.1077+8G>A
ENST00000361114.9:c.1071+8G>A ENSP00000354415.5:n.1071+8G>A
ENST00000398761.8:c.1077+8G>A ENSP00000381745.5:n.1077+8G>A
ENST00000398763.8:c.477+8G>A ENSP00000381747.4:n.477+8G>A
ENST00000418483.6:c.477+8G>A ENSP00000402470.2:n.477+8G>A
ENST00000476605.7:c.598+8G>A
ENST00000635239.1:c.1083+8G>A ENSP00000489563.1:n.1083+8G>A
ENST00000642044.1:c.1089+8G>A ENSP00000493232.1:n.1089+8G>A
XM_005269383.1:c.1089+8G>A XP_005269440.1:n.1089+8G>A
XM_005269384.1:c.1083+8G>A XP_005269441.1:n.1083+8G>A
XM_005269386.1:c.387+8G>A XP_005269443.1:n.387+8G>A
XM_005269386.2:c.387+8G>A XP_005269443.1:n.387+8G>A
XM_011539119.1:c.1239+8G>A XP_011537421.1:n.1239+8G>A
XR_001746993.2:n.1327+8G>A
XR_001746994.2:n.1165+8G>A
XR_945585.1:n.1326+8G>A
XR_945586.1:n.1158+8G>A
XR_945586.2:n.1159+8G>A