Canonical Allele Identifier: CA377171706
Gene: MICU1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.72423270C>G , CM000672.2:g.72423270C>G GRCh38
NC_000010.10:g.74183028C>G , CM000672.1:g.74183028C>G GRCh37
NC_000010.9:g.73853034C>G NCBI36
NG_033179.1:g.207922G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000361114.10:c.1035G>C MANE Select ENSP00000354415.5:p.Met345Ile
ENST00000642044.1:c.1053G>C ENSP00000493232.1:p.Met351Ile
ENST00000361114.9:c.1035G>C ENSP00000354415.5:p.Met345Ile
ENST00000398761.8:c.1041G>C ENSP00000381745.5:p.Met347Ile
ENST00000398763.8:c.441G>C ENSP00000381747.4:p.Met147Ile
ENST00000418483.6:c.441G>C ENSP00000402470.2:p.Met147Ile
ENST00000476605.7:c.562G>C
ENST00000489666.2:c.441G>C ENSP00000474809.1:p.Met147Ile
ENST00000635239.1:c.1047G>C ENSP00000489563.1:p.Met349Ile
NM_001195518.1:c.1035G>C NP_001182447.1:p.Met345Ile
NM_001195519.1:c.441G>C NP_001182448.1:p.Met147Ile
NM_006077.3:c.1041G>C NP_006068.2:p.Met347Ile
XM_005269383.1:c.1053G>C XP_005269440.1:p.Met351Ile
XM_005269384.1:c.1047G>C XP_005269441.1:p.Met349Ile
XM_005269386.1:c.351G>C XP_005269443.1:p.Met117Ile
XM_011539119.1:c.1203G>C XP_011537421.1:p.Met401Ile
XR_945585.1:n.1290G>C
XR_945586.1:n.1122G>C
NM_001363513.1:c.1053G>C NP_001350442.1:p.Met351Ile
XM_005269386.2:c.351G>C XP_005269443.1:p.Met117Ile
XR_001746993.2:n.1291G>C
XR_001746994.2:n.1129G>C
XR_945586.2:n.1123G>C
NM_001195518.2:c.1035G>C MANE Select NP_001182447.1:p.Met345Ile
NM_001195519.2:c.441G>C NP_001182448.1:p.Met147Ile
NM_001363513.2:c.1053G>C NP_001350442.1:p.Met351Ile
NM_006077.4:c.1041G>C NP_006068.2:p.Met347Ile