Canonical Allele Identifier: CA5550347
Community Standard Title: NM_001195518.2(MICU1):c.161+1G>A
Gene: MICU1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72566632C>T , CM000672.2:g.72566632C>T GRCh38
NC_000010.10:g.74326390C>T , CM000672.1:g.74326390C>T GRCh37
NC_000010.9:g.73996396C>T NCBI36
NG_033179.1:g.64560G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001195518.2:c.161+1G>A MANE Select NP_001182447.1:n.161+1G>A
ENST00000361114.10:c.161+1G>A MANE Select ENSP00000354415.5:n.161+1G>A
NM_001195518.1:c.161+1G>A NP_001182447.1:n.161+1G>A
NM_001363513.1:c.161+1G>A NP_001350442.1:n.161+1G>A
NM_001363513.2:c.161+1G>A NP_001350442.1:n.161+1G>A
NM_006077.3:c.161+1G>A NP_006068.2:n.161+1G>A
NM_006077.4:c.161+1G>A NP_006068.2:n.161+1G>A
ENST00000361114.9:c.161+1G>A ENSP00000354415.5:n.161+1G>A
ENST00000398761.8:c.161+1G>A ENSP00000381745.5:n.161+1G>A
ENST00000603011.5:c.59+1G>A ENSP00000474192.1:n.59+1G>A
ENST00000604025.1:n.227+1G>A
ENST00000604238.2:c.161+1G>A ENSP00000474775.2:n.161+1G>A
ENST00000635239.1:c.161+1G>A ENSP00000489563.1:n.161+1G>A
ENST00000642044.1:c.161+1G>A ENSP00000493232.1:n.161+1G>A
XM_005269383.1:c.161+1G>A XP_005269440.1:n.161+1G>A
XM_005269384.1:c.161+1G>A XP_005269441.1:n.161+1G>A
XM_011539119.1:c.161+1G>A XP_011537421.1:n.161+1G>A
XR_001746993.2:n.249+1G>A
XR_001746994.2:n.249+1G>A
XR_945585.1:n.248+1G>A
XR_945586.1:n.248+1G>A
XR_945586.2:n.249+1G>A